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Displaying diseases 376 - 400 of 660 in total
Isobutyryl-CoA Dehydrogenase Deficiency  (611283 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
Ethylmalonic acid (HMDB0000622) Urine2.567-10.269 umol/mmol creatinineAbnormalNewborn (0-30 days old)Both details
Ethylmalonic acid (HMDB0000622) Urine9.413-16.260 umol/mmol creatinineAbnormalInfant (0-1 year old)Male details
Isobutyrylglycine (HMDB0000730) Urine1.791-27.339 umol/mmol creatinineAbnormalNewborn (0-30 days old)Both details
Isobutyrylglycine (HMDB0000730) Urine1.558-7.477 umol/mmol creatinineAbnormalInfant (0-1 year old)Male details
Isopropyl alcohol poisoning
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
Isopropyl alcohol (HMDB0000863) Blood8000.0 (7000.0-18000.0) uMAbnormalInfant (0-1 year old)Both details
Isovaleric acidemia  (243500 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
Creatinine (HMDB0000562) Blood57.5 (27.00-88.00) uMAbnormalAdult (>18 years old)Both details
Valerylcarnitine (HMDB0013128) Blood27.300-48.200 uMAbnormalNot SpecifiedNot Specified details
Isovalerylcarnitine (HMDB0000688) Blood27.300-48.200 uMAbnormalNot SpecifiedNot Specified details
5,8,11-Eicosatrienoic acid (HMDB0010378) Blood6.3 +/- 3.8 uMAbnormalAdult (>18 years old)Not Specified details
Docosapentaenoic acid (22n-3) (HMDB0006528) Blood18.7 +/- 10.4 uMAbnormalAdult (>18 years old)Not Specified details
Eicosadienoic acid (HMDB0005060) Blood16.9 +/- 4.8 uMAbnormalAdult (>18 years old)Not Specified details
Vaccenic acid (HMDB0003231) Blood115.3 +/- 25.6 uMAbnormalAdult (>18 years old)Not Specified details
Palmitoleic acid (HMDB0003229) Blood206.0 +/- 92.7 uMAbnormalAdult (>18 years old)Not Specified details
gamma-Linolenic acid (HMDB0003073) Blood35.0 +/- 17.7 uMAbnormalAdult (>18 years old)Not Specified details
Dihomo-gamma-linolenic acid (HMDB0002925) Blood84.8 +/- 30.8 uMAbnormalAdult (>18 years old)Not Specified details
Nervonic acid (HMDB0002368) Blood77.5 +/- 21.6 uMAbnormalAdult (>18 years old)Not Specified details
Adrenic acid (HMDB0002226) Blood16.1 +/- 6.5 uMAbnormalAdult (>18 years old)Not Specified details
Hypogeic acid (HMDB0002186) Blood67.3 +/- 75.2 uMAbnormalAdult (>18 years old)Not Specified details
Erucic acid (HMDB0002068) Blood3.4 +/- 2.2 uMAbnormalAdult (>18 years old)Not Specified details
Eicosapentaenoic acid (HMDB0001999) Blood13.9 +/- 17.9 uMAbnormalAdult (>18 years old)Not Specified details
Docosapentaenoic acid (22n-6) (HMDB0001976) Blood13.9 +/- 5.2 uMAbnormalAdult (>18 years old)Not Specified details
alpha-Linolenic acid (HMDB0001388) Blood24.8 +/- 13.3 uMAbnormalAdult (>18 years old)Not Specified details
Arachidonic acid (HMDB0001043) Blood415.6 +/- 114.3 uMAbnormalAdult (>18 years old)Not Specified details
Isovaleric acid (HMDB0000718) Blood75.393 uMAbnormalChildren (1 - 13 years old)Female details
Linoleic acid (HMDB0000673) Blood2796.7 +/- 493.9 uMAbnormalAdult (>18 years old)Not Specified details
Oleic acid (HMDB0000207) Blood2365.1 +/- 844.5 uMAbnormalAdult (>18 years old)Not Specified details
Docosahexaenoic acid (HMDB0002183) Blood64.3 +/- 28.5 uMAbnormalAdult (>18 years old)Not Specified details
Isovalerylglycine (HMDB0000678) Blood40.0 (1.3-80.0) uMAbnormalNewborn (0-30 days old)Both details
Creatinine (HMDB0000562) Blood209.5 (90.00-329.00) uMAbnormalChildren (1-13 years old)Both details
2-Methylbutyrylglycine (HMDB0000339) Urine14.5-36.7 umol/mmol creatinineAbnormalNewborn (0-30 days old)Not Specified details
Isovalerylglycine (HMDB0000678) Urine4538.509 umol/mmol creatinineAbnormalNot SpecifiedNot Specified details
2-Methylbutyrylglycine (HMDB0000339) Urine0.284 umol/mmol creatinineAbnormalNot SpecifiedNot Specified details
Methylsuccinic acid (HMDB0001844) Urine5.200-62.500 umol/mmol creatinineAbnormalInfant (0-1 year old)Not Specified details
Methylsuccinic acid (HMDB0001844) Urine11.400-17.300 umol/mmol creatinineAbnormalChildren (1 - 13 years old)Not Specified details
Methylsuccinic acid (HMDB0001844) Urine1.100-5.900 umol/mmol creatinineAbnormalChildren (1 - 13 years old)Not Specified details
Methylsuccinic acid (HMDB0001844) Urine0.900-16.700 umol/mmol creatinineAbnormalInfant (0-1 year old)Not Specified details
Isovaleric acid (HMDB0000718) Urine14.391 umol/mmol creatinineAbnormalChildren (1 - 13 years old)Female details
Isovalerylglycine (HMDB0000678) Urine4474.586 umol/mmol creatinineAbnormalChildren (1 - 13 years old)Female details
2-Methylcitric acid (HMDB0000379) Urine1.470-1.560 umol/mmol creatinineAbnormalChildren (1 - 13 years old)Not Specified details
2-Methylcitric acid (HMDB0000379) Urine0.780-3.600 umol/mmol creatinineAbnormalChildren (1 - 13 years old)Not Specified details
4-Hydroxyisovaleric acid (HMDB0002011) UrineNot QuantifiedAbnormalNot AvailableNot Available details
Isovalerylglycine (HMDB0000678) Urine15-195 umol/mmol creatinineAbnormalAdolescent (13-18 years old)Male details
Juvenile myoclonic epilepsy  (606904 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
L-Cystine (HMDB0000192) Blood28.6 (24.2-33.0) uMAbnormalChildren (1-13 years old)Both details
Glycine (HMDB0000123) Blood354.0 (309.0-399.0) uMAbnormalChildren (1-13 years old)Both details
Serine (HMDB0000187) Blood140.0 (131.0-148.0) uMAbnormalChildren (1-13 years old)Both details
Ketoacidosis  (245050 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
Acetoacetic acid (HMDB0000060) Blood910 uMAbnormalChildren (1-13 years old)Male details
Acetoacetic acid (HMDB0000060) Blood1540 uMAbnormalChildren (1-13 years old)Male details
Hydrogen carbonate (HMDB0000595) Blood9300 uMAbnormalNewborn (0-30 days old)Male details
Ketosis
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
3-Hydroxybutyrylcarnitine (HMDB0013127) Blood0.200 (0.0800-0.500) uMAbnormalInfant (0-1 year old)Not Specified details
Acetoacetic acid (HMDB0000060) Urine1.00 (0.00-2.00) umol/mmol creatinineAbnormalAdult (>18 years old)Both details
Acetoacetic acid (HMDB0000060) Urine10025.00 (50.00-20000.00) umol/mmol creatinineAbnormalChildren (1-13 years old)Both details
Traumatic acid (HMDB0000933) UrineNot QuantifiedAbnormalNot AvailableNot Available details
3-Hydroxytetradecanedioic acid (HMDB0000394) UrineNot QuantifiedAbnormalNot AvailableNot Available details
Acetoacetic acid (HMDB0000060) Urine1.6 (0.2-5.8) umol/mmol creatinineAbnormalChildren (1-13 years old)Both details
2-Methyl-3-hydroxybutyric acid (HMDB0000354) Urine370.837-809.510 umol/mmol creatinineAbnormalChildren (1 - 13 years old)Female details
Tiglylglycine (HMDB0000959) Urine930.484-993.797 umol/mmol creatinineAbnormalChildren (1 - 13 years old)Female details
Acetoacetic acid (HMDB0000060) Urine0.1 (0-1.5) umol/mmol creatinineAbnormalInfant (0-1 year old)Both details
Acetoacetic acid (HMDB0000060) Urine0.08 (0-1.5) umol/mmol creatinineAbnormalNewborn (0-30 days old)Both details
Ketotic hypoglycemia
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
3-Hydroxybutyric acid (HMDB0000011) Blood1490-5040 uMAbnormalInfant (0-1 year old)Not Specified details
Kidney cancer
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
11-Dehydrocorticosterone (HMDB0004029) Blood0.0278 +/- 0.0060 uMAbnormalElderly (>65 years old)Male details
11-Dehydrocorticosterone (HMDB0004029) Blood0.0142 +/- 0.0039 uMAbnormalElderly (>65 years old)Male details
11-Dehydrocorticosterone (HMDB0004029) Blood0.0204 +/- 0.0034 uMAbnormalElderly (>65 years old)Female details
11-Dehydrocorticosterone (HMDB0004029) Blood0.0336 +/- 0.0054 uMAbnormalElderly (>65 years old)Female details
LysoPE(P-16:0/0:0) (HMDB0011152) BloodNot QuantifiedAbnormalAdult (>18 years old)Both details
Glycerophosphocholine (HMDB0000086) BloodNot QuantifiedAbnormalAdult (>18 years old)Both details
Kidney disease
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
Symmetric dimethylarginine (HMDB0003334) Blood2.19 +/- 0.16 uMAbnormalAdult (>18 years old)Both details
Inosine (HMDB0000195) Blood1.6 +/- 0.4 uMAbnormalAdult (>18 years old)Both details
1-Methyladenosine (HMDB0003331) Blood0.220 +/- 0.430 uMAbnormalAdult (>18 years old)Both details
N2,N2-Dimethylguanosine (HMDB0004824) Blood0.44 +/- 0.09 uMAbnormalAdult (>18 years old)Both details
Cadaverine (HMDB0002322) Blood0.16 +/- 0.09 uMAbnormalAdult (>18 years old)Both details
D-Xylose (HMDB0000098) Blood2867.1 +/- 917.0 uMAbnormalAdult (>18 years old)Not Specified details
Dimethylamine (HMDB0000087) Blood29.1 +/- 12.1 uMAbnormalAdult (>18 years old)Both details
Dihydrobiopterin (HMDB0000038) Blood0.0635 +/- 0.0041 uMAbnormalAdult (>18 years old)Both details
Symmetric dimethylarginine (HMDB0003334) Blood2.69 +/- 0.12 uMAbnormalAdult (>18 years old)Both details
Symmetric dimethylarginine (HMDB0003334) Blood2.28 +/- 0.13 uMAbnormalAdult (>18 years old)Not Specified details
Symmetric dimethylarginine (HMDB0003334) Blood1.41 +/- 0.10 uMAbnormalAdult (>18 years old)Both details
Trimethylamine N-oxide (HMDB0000925) Blood99.9 +/- 31.9 uMAbnormalAdult (>18 years old)Both details
Symmetric dimethylarginine (HMDB0003334) Blood2.87 +/- 0.15 uMAbnormalAdult (>18 years old)Both details
Dimethylglycine (HMDB0000092) Blood5.4 (3.1-7.2) uMAbnormalAdult (>18 years old)Both details
Dimethylglycine (HMDB0000092) Blood5.6 (4.8 - 10.1) uMAbnormalAdult (>18 years old)Both details
Symmetric dimethylarginine (HMDB0003334) Blood2.15 +/- 0.15 uMAbnormalAdult (>18 years old)Both details
Symmetric dimethylarginine (HMDB0003334) Blood2.12 +/- 0.09 uMAbnormalAdult (>18 years old)Both details
Asymmetric dimethylarginine (HMDB0001539) Blood0.91 +/- 0.04 uMAbnormalAdult (>18 years old)Both details
Asymmetric dimethylarginine (HMDB0001539) Blood1.04 +/- 0.04 uMAbnormalAdult (>18 years old)Both details
Asymmetric dimethylarginine (HMDB0001539) Blood0.87 +/- 0.04 uMAbnormalAdult (>18 years old)Both details
Asymmetric dimethylarginine (HMDB0001539) Blood0.97 +/- 0.02 uMAbnormalAdult (>18 years old)Both details
Fructosamine (HMDB0002030) Blood315 (260–430) uMAbnormalAdult (>18 years old)Both details
Methylhistidine (HMDB0000479) Blood23.7 +/- 18.6 uMAbnormalAdult (>18 years old)Both details
D-Xylose (HMDB0000098) Blood2911.1 +/- 752.4 uMAbnormalAdult (>18 years old)Not Specified details
Phenylacetic acid (HMDB0000209) Blood3490.0 +/- 330.0 uMAbnormalAdult (>18 years old)Not Specified details
Histamine (HMDB0000870) Blood0.0024 (0.0015-0.0032) uMAbnormalAdult (>18 years old)Both details
1-Methylguanosine (HMDB0001563) Blood0.099 +/- 0.021 uMAbnormalAdult (>18 years old)Both details
Cadaverine (HMDB0002322) Blood0.22 +/- 0.11 uMAbnormalAdult (>18 years old)Both details
Isomaltose (HMDB0002923) Blood68.98 +/- 24.26 uMAbnormalAdult (>18 years old)Both details
Symmetric dimethylarginine (HMDB0003334) Blood2.08 +/- 0.11 uMAbnormalAdult (>18 years old)Both details
1-Methylhistidine (HMDB0000001) Blood28.8 +/- 18.2 uMAbnormalAdult (>18 years old)Both details
1-Methylhistidine (HMDB0000001) Blood83.1 +/- 21.7 uMAbnormalAdult (>18 years old)Both details
Methylhistidine (HMDB0000479) Blood13.0 +/- 10.4 uMAbnormalAdult (>18 years old)Both details
Dimethylglycine (HMDB0000092) Blood4.8 (3.6-6.2) uMAbnormalAdult (>18 years old)Both details
Ethanol (HMDB0000108) Blood90.0 (10.0-170.0) uMAbnormalAdult (>18 years old)Both details
Acetone (HMDB0001659) Blood25.0 - 85.0 uMAbnormalAdult (>18 years old)Both details
Nitrate (HMDB0002878) Blood129.0 (18.5-417.7) uMAbnormalAdult (>18 years old)Both details
Zinc (HMDB0015532) Blood8.0 +/- 0.2 uMAbnormalAdult (>18 years old)Both details
L-alpha-Aminobutyric acid (HMDB0000452) Blood24.0 +/- 3.0 uMAbnormalAdult (>18 years old)Both details
4-Heptanone (HMDB0004814) Blood0.070 (0.040-0.090) uMAbnormalAdult (>18 years old)Both details
3-Hydroxymandelic acid (HMDB0000750) Blood700.0 (670.0 - 1030.0) uMAbnormalAdult (>18 years old)Both details
Imidazolone (HMDB0004363) Blood0.035 +/- 0.016 uMAbnormalAdult (>18 years old)Both details
8-Hydroxy-deoxyguanosine (HMDB0003333) Blood0.0037 +/- 0.00021 uMAbnormalAdult (>18 years old)Both details
Trimethylamine (HMDB0000906) Blood1.5 +/- 0.5 uMAbnormalAdult (>18 years old)Both details
Kidney transplantation
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
Pentosidine (HMDB0003933) Blood0.0051 +/- 0.0016 uMAbnormalAdult (>18 years old)Both details
Kynureninase deficiency  (236800 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
Xanthurenic acid (HMDB0000881) Blood3.0 (2.0 - 4.0) uMAbnormalChildren (1-13 years old)Not Specified details
Xanthurenic acid (HMDB0000881) Urine200.0 (194.0 - 260.0) umol/mmol creatinineAbnormalChildren (1-13 years old)Not Specified details
L-2-Hydroxyglutaric aciduria  (236792 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
L-2-Hydroxyglutaric acid (HMDB0000694) Blood47.0 +/- 13.0 uMAbnormalAdult (>18 years old)Both details
2-Hydroxyglutarate (HMDB0059655) Blood47.0 +/- 13.0 uMAbnormalAdult (>18 years old)Both details
L-2-Hydroxyglutaric acid (HMDB0000694) Blood23 uMAbnormalAdolescent (13-18 years old)Male details
L-2-Hydroxyglutaric acid (HMDB0000694) Blood47(27-62) uMAbnormalInfant (0-1 year old)Female details
L-Carnitine (HMDB0000062) Blood23-50 uMAbnormalChildren (1-13 years old)Both details
Lysine (HMDB0000182) Blood185-396 uMAbnormalChildren (1-13 years old)Both details
L-2-Hydroxyglutaric acid (HMDB0000694) Cerebrospinal Fluid (CSF)30 uMAbnormalAdolescent (13-18 years old)Male details
L-2-Hydroxyglutaric acid (HMDB0000694) Cerebrospinal Fluid (CSF)62 (34-100) uMAbnormalInfant (0-1 year old)Female details
Lysine (HMDB0000182) Cerebrospinal Fluid (CSF)60.000-94.500 uMAbnormalChildren (1-13 years old)Female details
L-2-Hydroxyglutaric acid (HMDB0000694) Urine942 umol/mmol creatinineAbnormalAdolescent (13-18 years old)Male details
L-Carnitine (HMDB0000062) Urine31-Jul umol/mmol creatinineAbnormalChildren (1-13 years old)Both details
Lysine (HMDB0000182) Urine36-168 umol/mmol creatinineAbnormalChildren (1-13 years old)Both details
2-Hydroxyglutarate (HMDB0059655) Urine630-1420 umol/mmol creatinineAbnormalChildren (1-13 years old)Both details
Lactose Intolerance  (223000 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
Alpha-Lactose (HMDB0000186) Urine585 umol/mmol creatinineAbnormalInfant (0-1 year old)Male details
Late-onset preeclampsia
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
3-Hydroxyisovaleric acid (HMDB0000754) Blood6.5 (3.3) uMAbnormalAdult (>18 years old)Female details
Lactic acid (HMDB0000190) Blood1213.1 (564.7) uMAbnormalAdult (>18 years old)Female details
Ornithine (HMDB0000214) Blood36.8 (17.4) uMAbnormalAdult (>18 years old)Female details
Pyruvic acid (HMDB0000243) Blood83.1 (45.8) uMAbnormalAdult (>18 years old)Female details
3-Hydroxybutyric acid (HMDB0000011) Blood49.9 (46.7) uMAbnormalAdult (>18 years old)Female details
L-Arginine (HMDB0000517) Blood136.3 (55.5) uMAbnormalAdult (>18 years old)Female details
Creatinine (HMDB0000562) Blood63.2 (16.5) uMAbnormalAdult (>18 years old)Female details
Glutamine (HMDB0000641) Blood253.1 (131.1) uMAbnormalAdult (>18 years old)Female details
Leucine (HMDB0000687) Blood114.5 (98.5) uMAbnormalAdult (>18 years old)Female details
Methionine (HMDB0000696) Blood24.7 (7.4) uMAbnormalAdult (>18 years old)Female details
Serine (HMDB0000187) Blood148.4 (103.4) uMAbnormalAdult (>18 years old)Female details
Isopropyl alcohol (HMDB0000863) Blood10.7 (4.6) uMAbnormalAdult (>18 years old)Female details
L-Valine (HMDB0000883) Blood142.5 (50.6) uMAbnormalAdult (>18 years old)Female details
Trimethylamine (HMDB0000906) Blood6.03 (2.0) uMAbnormalAdult (>18 years old)Female details
D-Alanine (HMDB0001310) Blood366.8 (204.8) uMAbnormalAdult (>18 years old)Female details
Acetone (HMDB0001659) Blood22.1 (11.4) uMAbnormalAdult (>18 years old)Female details
Propylene glycol (HMDB0001881) Blood11.1 (5.0) uMAbnormalAdult (>18 years old)Female details
Acetamide (HMDB0031645) Blood11.9 (7.8) uMAbnormalAdult (>18 years old)Female details
Malonylcarnitine (HMDB0002095) Blood46.8 (24.8) uMAbnormalAdult (>18 years old)Female details
alpha-D-Glucose (HMDB0003345) Blood4312.9 (1783.0) uMAbnormalAdult (>18 years old)Female details
D-Glucose (HMDB0000122) Blood4312.9 (1783.0) uMAbnormalAdult (>18 years old)Female details
2-Hydroxybutyric acid (HMDB0000008) Blood28.0 (14.4) uMAbnormalAdult (>18 years old)Female details
Acetic acid (HMDB0000042) Blood80.6 (101.5) uMAbnormalAdult (>18 years old)Female details
Betaine (HMDB0000043) Blood33.3 (23.6) uMAbnormalAdult (>18 years old)Female details
Acetoacetic acid (HMDB0000060) Blood18.9 (9.8) uMAbnormalAdult (>18 years old)Female details
L-Carnitine (HMDB0000062) Blood46.8 (24.8) uMAbnormalAdult (>18 years old)Female details
Creatine (HMDB0000064) Blood41.5 (5.9) uMAbnormalAdult (>18 years old)Female details
Dimethylamine (HMDB0000087) Blood3.2 (1.7) uMAbnormalAdult (>18 years old)Female details
Citric acid (HMDB0000094) Blood85.9 (26.9) uMAbnormalAdult (>18 years old)Female details
Ethanol (HMDB0000108) Blood67.7 (42.6) uMAbnormalAdult (>18 years old)Female details
1-Methylhistidine (HMDB0000001) Blood70.3 (40.0) uMAbnormalAdult (>18 years old)Female details
Glycine (HMDB0000123) Blood238.4 (129.3) uMAbnormalAdult (>18 years old)Female details
Glycerol (HMDB0000131) Blood800.7 (541.7) uMAbnormalAdult (>18 years old)Female details
Formic acid (HMDB0000142) Blood27.0 (13.8) uMAbnormalAdult (>18 years old)Female details
L-Tyrosine (HMDB0000158) Blood65.1 (23.7) uMAbnormalAdult (>18 years old)Female details
Phenylalanine (HMDB0000159) Blood78.0 (45.9) uMAbnormalAdult (>18 years old)Female details
L-Alanine (HMDB0000161) Blood366.8 (204.8) uMAbnormalAdult (>18 years old)Female details
Proline (HMDB0000162) Blood172.2 (57.7) uMAbnormalAdult (>18 years old)Female details
L-Threonine (HMDB0000167) Blood157.2 (60.2) uMAbnormalAdult (>18 years old)Female details
L-Asparagine (HMDB0000168) Blood31.3 (11.3) uMAbnormalAdult (>18 years old)Female details
Lathosterolosis  (607330 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
Bilirubin (HMDB0000054) Blood29.59 uMAbnormalNewborn (0-30 days old)Male details
Bilirubin (HMDB0000054) Blood42.247 uMAbnormalNewborn (0-30 days old)Male details
Cholesterol (HMDB0000067) Blood4100 uMAbnormalChildren (1-13 years old)Male details
7-Dehydrocholesterol (HMDB0000032) Blood0.21 uMAbnormalChildren (1-13 years old)Male details
Lathosterol (HMDB0001170) Blood81.6 uMAbnormalChildren (1-13 years old)Male details
Leber Optic Atrophy and Dystonia  (500001 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
Lactic acid (HMDB0000190) Blood2200-3000 uMAbnormalAdult (>18 years old)Female details
Lactic acid (HMDB0000190) Cerebrospinal Fluid (CSF)3700 uMAbnormalAdult (>18 years old)Female details
Lecithin:cholesterol Acyltransferase Deficiency  (245900 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
Cholesterol (HMDB0000067) Blood2190-2940 uMAbnormalAdult (>18 years old)Both details
Bilirubin (HMDB0000054) Blood24.5 uMAbnormalAdult (>18 years old)Female details
Iron (HMDB0015531) Blood25.4 uMAbnormalAdult (>18 years old)Female details
Leigh Syndrome, French Canadian Type  (220111 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
Lactic acid (HMDB0000190) Blood3800 +/- 2200 uMAbnormalAdolescent (13-18 years old)Both details
Hydrogen carbonate (HMDB0000595) Blood18900 +/- 2500 uMAbnormalAdolescent (13-18 years old)Both details
Lactic acid (HMDB0000190) Cerebrospinal Fluid (CSF)3600-6200 uMAbnormalAdolescent (13-18 years old)Both details
Leigh's syndrome, subacute necrotizing encephalopathy, SNE  (256000 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
Hydrogen carbonate (HMDB0000595) Blood21000 uMAbnormalInfant (0-1 year old)Male details
D-Glucose (HMDB0000122) Blood2553.344 uMAbnormalInfant (0-1 year old)Male details
Lactic acid (HMDB0000190) Blood3374.857 uMAbnormalInfant (0-1 year old)Male details
Pyruvic acid (HMDB0000243) Blood499.647 uMAbnormalInfant (0-1 year old)Male details
alpha-D-Glucose (HMDB0003345) Blood2553.344 uMAbnormalInfant (0-1 year old)Male details
D-Glucose (HMDB0000122) Cerebrospinal Fluid (CSF)2053.777 uMAbnormalInfant (0-1 year old)Male details
alpha-D-Glucose (HMDB0003345) Cerebrospinal Fluid (CSF)2053.777 uMAbnormalInfant (0-1 year old)Male details
Leptin Deficiency or Dysfunction  (614962 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
Cholesterol (HMDB0000067) Blood4991.549 uMAbnormalInfant (0-1 year old)Female details
D-Glucose (HMDB0000122) Blood4329.583 uMAbnormalInfant (0-1 year old)Female details
Thyroxine (HMDB0000248) Blood0.0747 uMAbnormalInfant (0-1 year old)Female details
alpha-D-Glucose (HMDB0003345) Blood4329.583 uMAbnormalInfant (0-1 year old)Female details
Cortisol (HMDB0000063) Urine0.0114 umol/mmol creatinineAbnormalInfant (0-1 year old)Female details
Lesch-Nyhan syndrome  (300322 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
Uridine (HMDB0000296) Blood7.7 +/- 0.9 uMAbnormalAdult (>18 years old)Both details
Xanthine (HMDB0000292) Blood2.2 +/- 0.3 uMAbnormalAdult (>18 years old)Both details
Hypoxanthine (HMDB0000157) Blood5.7 +/- 0.4 uMAbnormalAdult (>18 years old)Both details
Uric acid (HMDB0000289) Blood600-1000 uMAbnormalChildren (1-13 years old)Both details
Hypoxanthine (HMDB0000157) Blood7.0 +/- 3.2 uMAbnormalAdult (>18 years old)Male details
Uric acid (HMDB0000289) Blood459 uMAbnormalAdult (>18 years old)Male details
Uric acid (HMDB0000289) Blood570 uMAbnormalChildren (1 - 13 years old)Male details
Uric acid (HMDB0000289) Blood643 +/- 274 uMAbnormalAdult (>18 years old)Male details
Xanthine (HMDB0000292) Blood118 uMAbnormalAdult (>18 years old)Male details
Xanthine (HMDB0000292) Blood2.7 +/- 1.6 uMAbnormalAdult (>18 years old)Male details
Creatinine (HMDB0000562) Blood144 uMAbnormalAdult (>18 years old)Male details
Guanine (HMDB0000132) Urine1.92 (0.99-2.86) umol/mmol creatinineAbnormalNot SpecifiedBoth details
Hypoxanthine (HMDB0000157) Urine74.846 umol/mmol creatinineAbnormalAdult (>18 years old)Male details
Uric acid (HMDB0000289) Urine233.6 umol/mmol creatinineAbnormalChildren (1 - 13 years old)Male details
Uric acid (HMDB0000289) Urine1900 +/- 900 umol/mmol creatinineAbnormalAdult (>18 years old)Male details
Xanthine (HMDB0000292) Urine31.657 +/- 19.220 umol/mmol creatinineAbnormalAdult (>18 years old)Male details
Leukemia
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
Phenylacetic acid (HMDB0000209) BloodNot QuantifiedAbnormalAdult (>18 years old)Both details
1-Methyladenosine (HMDB0003331) Blood0.078 +/- 0.031 uMAbnormalAdult (>18 years old)Both details
Lysine (HMDB0000182) Cerebrospinal Fluid (CSF)21.9 +/- 6.2 uMAbnormalChildren (1-13 years old)Not Specified details
5-Hydroxytryptophol (HMDB0001855) Cerebrospinal Fluid (CSF)0.12 +/- 0.09 uMAbnormalChildren (1-13 years old)Not Specified details
Methionine (HMDB0000696) Cerebrospinal Fluid (CSF)6.0 +/- 5.3 uMAbnormalChildren (1-13 years old)Not Specified details
Methionine (HMDB0000696) Cerebrospinal Fluid (CSF)3.5 +/- 0.4 uMAbnormalChildren (1-13 years old)Not Specified details
Ornithine (HMDB0000214) Cerebrospinal Fluid (CSF)7.6 +/- 3.1 uMAbnormalChildren (1-13 years old)Not Specified details
Ornithine (HMDB0000214) Cerebrospinal Fluid (CSF)6.9 +/- 3.6 uMAbnormalChildren (1-13 years old)Not Specified details
Phenylalanine (HMDB0000159) Cerebrospinal Fluid (CSF)18.6 +/- 5.2 uMAbnormalChildren (1-13 years old)Not Specified details
Phenylalanine (HMDB0000159) Cerebrospinal Fluid (CSF)16.4 +/- 6.3 uMAbnormalChildren (1-13 years old)Not Specified details
Serine (HMDB0000187) Cerebrospinal Fluid (CSF)38.3 +/- 15.5 uMAbnormalChildren (1-13 years old)Not Specified details
Serine (HMDB0000187) Cerebrospinal Fluid (CSF)31.9 +/- 8.8 uMAbnormalChildren (1-13 years old)Not Specified details
Taurine (HMDB0000251) Cerebrospinal Fluid (CSF)8.0 +/- 4.3 uMAbnormalChildren (1-13 years old)Not Specified details
Taurine (HMDB0000251) Cerebrospinal Fluid (CSF)10.4 +/- 11.1 uMAbnormalChildren (1-13 years old)Not Specified details
L-Threonine (HMDB0000167) Cerebrospinal Fluid (CSF)41.0 +/- 15.9 uMAbnormalChildren (1-13 years old)Not Specified details
L-Threonine (HMDB0000167) Cerebrospinal Fluid (CSF)30.2 +/- 9.8 uMAbnormalChildren (1-13 years old)Not Specified details
L-Tryptophan (HMDB0000929) Cerebrospinal Fluid (CSF)13.0 +/- 5.2 uMAbnormalChildren (1-13 years old)Not Specified details
L-Tryptophan (HMDB0000929) Cerebrospinal Fluid (CSF)12.8 +/- 3.5 uMAbnormalChildren (1-13 years old)Not Specified details
L-Tyrosine (HMDB0000158) Cerebrospinal Fluid (CSF)13.0 +/- 4.1 uMAbnormalChildren (1-13 years old)Both details
L-Tyrosine (HMDB0000158) Cerebrospinal Fluid (CSF)12.6 +/- 3.3 uMAbnormalChildren (1-13 years old)Both details
L-Valine (HMDB0000883) Cerebrospinal Fluid (CSF)21.8 +/- 7.2 uMAbnormalChildren (1-13 years old)Not Specified details
L-Valine (HMDB0000883) Cerebrospinal Fluid (CSF)17.9 +/- 6.7 uMAbnormalChildren (1-13 years old)Not Specified details
Leucine (HMDB0000687) Cerebrospinal Fluid (CSF)13.1 +/- 5.6 uMAbnormalChildren (1-13 years old)Not Specified details
Lysine (HMDB0000182) Cerebrospinal Fluid (CSF)26.9 +/- 11.1 uMAbnormalChildren (1-13 years old)Not Specified details
5-Methoxytryptophol (HMDB0001896) Cerebrospinal Fluid (CSF)0.03 +/- 0.22 (0.004 - 0.04) uMAbnormalChildren (1-13 years old)Both details
L-Alanine (HMDB0000161) Cerebrospinal Fluid (CSF)46.1 +/- 13.5 uMAbnormalChildren (1-13 years old)Not Specified details
L-Alanine (HMDB0000161) Cerebrospinal Fluid (CSF)34.8 +/- 7.8 uMAbnormalChildren (1-13 years old)Not Specified details
L-Arginine (HMDB0000517) Cerebrospinal Fluid (CSF)21.5 +/- 4.8 uMAbnormalChildren (1-13 years old)Not Specified details
L-Arginine (HMDB0000517) Cerebrospinal Fluid (CSF)16.6 +/- 6.3 uMAbnormalChildren (1-13 years old)Not Specified details
L-Asparagine (HMDB0000168) Cerebrospinal Fluid (CSF)7.9 +/- 6.4 uMAbnormalChildren (1-13 years old)Not Specified details
L-Asparagine (HMDB0000168) Cerebrospinal Fluid (CSF)11.1 +/- 6.7 uMAbnormalChildren (1-13 years old)Not Specified details
Glutamic acid (HMDB0000148) Cerebrospinal Fluid (CSF)26.8 +/- 5.9 uMAbnormalChildren (1-13 years old)Not Specified details
Glutamic acid (HMDB0000148) Cerebrospinal Fluid (CSF)23.6 +/- 8.5 uMAbnormalChildren (1-13 years old)Not Specified details
Glutamine (HMDB0000641) Cerebrospinal Fluid (CSF)1061.0 +/- 230.2 uMAbnormalChildren (1-13 years old)Not Specified details
Glycine (HMDB0000123) Cerebrospinal Fluid (CSF)9.7 +/- 4.9 uMAbnormalChildren (1-13 years old)Not Specified details
Glycine (HMDB0000123) Cerebrospinal Fluid (CSF)13.4 +/- 6.4 uMAbnormalChildren (1-13 years old)Not Specified details
Histidine (HMDB0000177) Cerebrospinal Fluid (CSF)21.4 +/- 6.6 uMAbnormalChildren (1-13 years old)Not Specified details
Histidine (HMDB0000177) Cerebrospinal Fluid (CSF)10.3 +/- 3.7 uMAbnormalChildren (1-13 years old)Not Specified details
Isoleucine (HMDB0000172) Cerebrospinal Fluid (CSF)7.1 +/- 4.2 uMAbnormalChildren (1-13 years old)Not Specified details
Isoleucine (HMDB0000172) Cerebrospinal Fluid (CSF)5.9 +/- 4.0 uMAbnormalChildren (1-13 years old)Not Specified details
Leucine (HMDB0000687) Cerebrospinal Fluid (CSF)16.5 +/- 7.0 uMAbnormalChildren (1-13 years old)Not Specified details
Glutamine (HMDB0000641) Cerebrospinal Fluid (CSF)1875.3 +/- 285.8 uMAbnormalChildren (1-13 years old)Not Specified details
1,3-Diacetylpropane (HMDB0029165) Urine0.096 +/- 0.012 umol/mmol creatinineAbnormalAdult (>18 years old)Both details
Putrescine (HMDB0001414) Urine0.350 +/- 0.097 umol/mmol creatinineAbnormalAdult (>18 years old)Both details
Cadaverine (HMDB0002322) Urine0.991 +/- 0.936 umol/mmol creatinineAbnormalAdult (>18 years old)Both details
N-Acetylputrescine (HMDB0002064) Urine2.66 +/- 1.45 umol/mmol creatinineAbnormalAdult (>18 years old)Both details
N-Acetylcadaverine (HMDB0002284) Urine0.460 +/- 0.232 umol/mmol creatinineAbnormalAdult (>18 years old)Both details
Spermidine (HMDB0001257) Urine0.347 +/- 0.147 umol/mmol creatinineAbnormalAdult (>18 years old)Both details
N8-Acetylspermidine (HMDB0002189) Urine0.394 +/- 0.156 umol/mmol creatinineAbnormalAdult (>18 years old)Both details
N1-Acetylspermidine (HMDB0001276) Urine1.03 +/- 0.693 umol/mmol creatinineAbnormalAdult (>18 years old)Both details
Spermine (HMDB0001256) Urine0.463 +/- 0.214 umol/mmol creatinineAbnormalAdult (>18 years old)Both details
N1-Acetylspermine (HMDB0001186) Urine0.239 +/- 0.123 umol/mmol creatinineAbnormalAdult (>18 years old)Both details
N1,N12-Diacetylspermine (HMDB0002172) Urine0.268 +/- 0.166 umol/mmol creatinineAbnormalAdult (>18 years old)Both details
1,3-Diaminopropane (HMDB0000002) Urine0.96 (0.12-2.11) umol/mmol creatinineAbnormalAdult (>18 years old)Both details
N1,N12-Diacetylspermine (HMDB0002172) UrineNot QuantifiedAbnormalAdult (>18 years old)Both details
N1-Acetylspermine (HMDB0001186) UrineNot QuantifiedAbnormalAdult (>18 years old)Both details
Spermine (HMDB0001256) UrineNot QuantifiedAbnormalAdult (>18 years old)Both details
N1-Acetylspermidine (HMDB0001276) UrineNot QuantifiedAbnormalAdult (>18 years old)Both details
N8-Acetylspermidine (HMDB0002189) UrineNot QuantifiedAbnormalAdult (>18 years old)Both details
Spermidine (HMDB0001257) UrineNot QuantifiedAbnormalAdult (>18 years old)Both details
N-Acetylcadaverine (HMDB0002284) UrineNot QuantifiedAbnormalAdult (>18 years old)Both details
N-Acetylputrescine (HMDB0002064) UrineNot QuantifiedAbnormalAdult (>18 years old)Both details
Cadaverine (HMDB0002322) UrineNot QuantifiedAbnormalAdult (>18 years old)Both details
Putrescine (HMDB0001414) UrineNot QuantifiedAbnormalAdult (>18 years old)Both details
1,3-Diacetylpropane (HMDB0029165) Urine0.096(0.012-0.211) umol/mmol creatinineAbnormalAdult (>18 years old)Both details
Leukoencephalopathy
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
L-Xylulose (HMDB0000751) Cerebrospinal Fluid (CSF)254.0 (88.0-166.0) uMAbnormalAdult (>18 years old)Both details
Leukotriene C4-Synthesis Deficiency  (614037 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
Leukotriene B4 (HMDB0001085) Blood0.082 uMAbnormalInfant (0-1 year old)Female details
Leukotriene C4 (HMDB0001198) Blood<0.00000799 uMAbnormalInfant (0-1 year old)Female details
Leukotriene E4 (HMDB0002200) Blood<0.00001137 uMAbnormalInfant (0-1 year old)Female details
Leukotriene D4 (HMDB0003080) Blood<0.00001 uMAbnormalInfant (0-1 year old)Female details
Leukotriene B4 (HMDB0001085) Cerebrospinal Fluid (CSF)0.0002 uMAbnormalInfant (0-1 year old)Female details
Leukotriene C4 (HMDB0001198) Cerebrospinal Fluid (CSF)<0.00000799 uMAbnormalInfant (0-1 year old)Female details
Leukotriene E4 (HMDB0002200) Cerebrospinal Fluid (CSF)<0.00001137 uMAbnormalInfant (0-1 year old)Female details
Leukotriene D4 (HMDB0003080) Cerebrospinal Fluid (CSF)<0.00001 uMAbnormalInfant (0-1 year old)Female details
Leukotriene B4 (HMDB0001085) Urine<0.000000005 umol/mmol creatinineAbnormalInfant (0-1 year old)Female details
Leukotriene E4 (HMDB0002200) Urine<0.000000005 umol/mmol creatinineAbnormalInfant (0-1 year old)Female details
Lewy body disease
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
Citric acid (HMDB0000094) Saliva85.33 +/- 8.98 uMAbnormalAdult (>18 years old)Both details
D-Glutamic acid (HMDB0003339) Saliva47.82 +/- 18.36 uMAbnormalAdult (>18 years old)Both details
Guanine (HMDB0000132) Saliva0.93 +/- 0.35 uMAbnormalAdult (>18 years old)Both details
Histidine (HMDB0000177) Saliva17.50 +/- 4.53 uMAbnormalAdult (>18 years old)Both details
Phenylalanine (HMDB0000159) Saliva8.55 +/- 1.22 uMAbnormalAdult (>18 years old)Both details
Phosphoenolpyruvic acid (HMDB0000263) Saliva2.36 +/- 3.13 uMAbnormalAdult (>18 years old)Both details
Dihydroxyacetone phosphate (HMDB0001473) Saliva8.71 +/- 3.88 uMAbnormalAdult (>18 years old)Both details
Glycerol 3-phosphate (HMDB0000126) Saliva19.83 +/- 10.17 uMAbnormalAdult (>18 years old)Both details
cis-Aconitic acid (HMDB0000072) Saliva2.72 +/- 0.53 uMAbnormalAdult (>18 years old)Both details
L-Arginine (HMDB0000517) Saliva14.27 +/- 1.60 uMAbnormalAdult (>18 years old)Both details
Citrulline (HMDB0000904) Saliva14.67 +/- 10.99 uMAbnormalAdult (>18 years old)Both details
L-Tyrosine (HMDB0000158) Saliva25.05 +/- 8.02 uMAbnormalAdult (>18 years old)Both details
3-Phosphoglyceric acid (HMDB0000807) Saliva8.40 +/- 9.51 uMAbnormalAdult (>18 years old)Both details
Isocitric acid (HMDB0000193) Saliva3.98 +/- 0.15 uMAbnormalAdult (>18 years old)Both details
Lysine (HMDB0000182) Saliva37.38 +/- 19.11 uMAbnormalAdult (>18 years old)Both details
L-Tryptophan (HMDB0000929) Saliva0.60 +/- 0.49 uMAbnormalAdult (>18 years old)Both details
D-Ribose 5-phosphate (HMDB0001548) Saliva1.79 +/- 1.79 uMAbnormalAdult (>18 years old)Both details
D-Ribulose 5-phosphate (HMDB0000618) Saliva4.74 +/- 4.64 uMAbnormalAdult (>18 years old)Both details
Cytidine (HMDB0000089) Saliva0.22 +/- 0.17 uMAbnormalAdult (>18 years old)Both details
Glucose 1-phosphate (HMDB0001586) Saliva2.26 +/- 2.53 uMAbnormalAdult (>18 years old)Both details
Glucose 6-phosphate (HMDB0001401) Saliva7.79 +/- 8.06 uMAbnormalAdult (>18 years old)Both details
Fructose 6-phosphate (HMDB0000124) Saliva1.57 +/- 1.71 uMAbnormalAdult (>18 years old)Both details
Adenosine (HMDB0000050) Saliva0.30 +/- 0.08 uMAbnormalAdult (>18 years old)Both details
D-Sedoheptulose 7-phosphate (HMDB0001068) Saliva1.60 +/- 1.55 uMAbnormalAdult (>18 years old)Both details
Oxidized glutathione (HMDB0003337) Saliva2.91 +/- 4.90 uMAbnormalAdult (>18 years old)Both details
Cytidine monophosphate (HMDB0000095) Saliva0.63 +/- 0.64 uMAbnormalAdult (>18 years old)Both details
Uridine 5'-monophosphate (HMDB0000288) Saliva2.38 +/- 3.06 uMAbnormalAdult (>18 years old)Both details
Adenosine monophosphate (HMDB0000045) Saliva4.12 +/- 6.43 uMAbnormalAdult (>18 years old)Both details
Betaine (HMDB0000043) Saliva45.82 +/- 51.32 uMAbnormalAdult (>18 years old)Both details
Pyruvic acid (HMDB0000243) Saliva138.32 +/- 112.14 uMAbnormalAdult (>18 years old)Both details
Lactic acid (HMDB0000190) Saliva1429.05 +/- 1493.26 uMAbnormalAdult (>18 years old)Both details
Putrescine (HMDB0001414) Saliva31.46 +/- 11.05 uMAbnormalAdult (>18 years old)Both details
beta-Alanine (HMDB0000056) Saliva2.05 +/- 0.86 uMAbnormalAdult (>18 years old)Both details
L-Alanine (HMDB0000161) Saliva33.94 +/- 19.76 uMAbnormalAdult (>18 years old)Both details
Sarcosine (HMDB0000271) Saliva4.84 +/- 3.39 uMAbnormalAdult (>18 years old)Both details
3-Hydroxybutyric acid (HMDB0000011) Saliva24.25 +/- 32.08 uMAbnormalAdult (>18 years old)Both details
2-Hydroxybutyric acid (HMDB0000008) Saliva8.12 +/- 5.32 uMAbnormalAdult (>18 years old)Both details
gamma-Aminobutyric acid (HMDB0000112) Saliva5.46 +/- 5.62 uMAbnormalAdult (>18 years old)Both details
Choline (HMDB0000097) Saliva19.46 +/- 8.84 uMAbnormalAdult (>18 years old)Both details
Serine (HMDB0000187) Saliva21.55 +/- 1.41 uMAbnormalAdult (>18 years old)Both details
Creatinine (HMDB0000562) Saliva10.53 +/- 2.45 uMAbnormalAdult (>18 years old)Both details
Proline (HMDB0000162) Saliva72.05 +/- 35.86 uMAbnormalAdult (>18 years old)Both details
Glycine (HMDB0000123) Saliva147.29 +/- 61.58 uMAbnormalAdult (>18 years old)Both details
L-Valine (HMDB0000883) Saliva5.55 +/- 3.92 uMAbnormalAdult (>18 years old)Both details
L-Threonine (HMDB0000167) Saliva5.83 +/- 3.11 uMAbnormalAdult (>18 years old)Both details
Creatine (HMDB0000064) Saliva19.48 +/- 12.88 uMAbnormalAdult (>18 years old)Both details
Isoleucine (HMDB0000172) Saliva1.54 +/- 0.98 uMAbnormalAdult (>18 years old)Both details
Leucine (HMDB0000687) Saliva5.66 +/- 3.83 uMAbnormalAdult (>18 years old)Both details
Malic acid (HMDB0000156) Saliva24.13 +/- 19.54 uMAbnormalAdult (>18 years old)Both details
L-Asparagine (HMDB0000168) Saliva3.02 +/- 0.83 uMAbnormalAdult (>18 years old)Both details
Ornithine (HMDB0000214) Saliva16.85 +/- 10.62 uMAbnormalAdult (>18 years old)Both details
L-Aspartic acid (HMDB0000191) Saliva13.36 +/- 3.74 uMAbnormalAdult (>18 years old)Both details
Adenine (HMDB0000034) Saliva0.37 +/- 0.21 uMAbnormalAdult (>18 years old)Both details
Hypoxanthine (HMDB0000157) Saliva3.53 +/- 3.84 uMAbnormalAdult (>18 years old)Both details
Spermidine (HMDB0001257) Saliva1.19 +/- 1.70 uMAbnormalAdult (>18 years old)Both details
Glutamine (HMDB0000641) Saliva48.74 +/- 50.79 uMAbnormalAdult (>18 years old)Both details
Displaying diseases 376 - 400 of 660 in total