Browsing Diseases
Displaying diseases 551 - 575 of 660 in total
Proprotein Convertase 1/3 Deficiency (600955 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| D-Glucose (HMDB0000122) | Blood | 2775.374-10213.376 uM | Abnormal | Adult (>18 years old) | Female | details |
| Cortisol (HMDB0000063) | Blood | <0.138 uM | Abnormal | Adult (>18 years old) | Female | details |
| Estradiol (HMDB0000151) | Blood | 0.000099 uM | Abnormal | Adult (>18 years old) | Female | details |
| Thyroxine (HMDB0000248) | Blood | 0.000009 uM | Abnormal | Adult (>18 years old) | Female | details |
| Liothyronine (HMDB0000265) | Blood | 0.0000041 uM | Abnormal | Adult (>18 years old) | Female | details |
| alpha-D-Glucose (HMDB0003345) | Blood | 2775.374-10213.376 uM | Abnormal | Adult (>18 years old) | Female | details |
Prostate cancer (176807 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Turanose (HMDB0011740) | Blood | 0.5 (0.0-1.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| 17a-Ethynylestradiol (HMDB0001926) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Male | details |
| Testosterone (HMDB0000234) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Male | details |
| Cholesterol (HMDB0000067) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Male | details |
| Kojibiose (HMDB0011742) | Blood | 0.5 (0.0-1.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| Selenomethionine (HMDB0003966) | Blood | 0.303 +/- 0.099 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| Galactinol dihydrate (HMDB0011739) | Blood | 0.5 (0.0-1.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| Glycyl-glycine (HMDB0011733) | Blood | 0.5 (0.0-1.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| Gluconolactone (HMDB0000150) | Blood | 0.5 (0.0-1.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Gulonolactone (HMDB0003466) | Blood | 0.5 (0.0-1.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| Hydrocinnamic acid (HMDB0000764) | Blood | 0.5 (0.0-1.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| Sorbitol-6-phosphate (HMDB0005831) | Blood | 0.5 (0.0-1.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| gamma-Tocopherol (HMDB0001492) | Blood | 2.3 (2.2-2.43) uM | Abnormal | Adult (>18 years old) | Both | details |
| Nonate (HMDB0011717) | Blood | 0.5 (0.0-1.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| 4-Hydroxybenzaldehyde (HMDB0011718) | Blood | 0.5 (0.0-1.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| Quinic acid (HMDB0003072) | Blood | 0.5 (0.0-1.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| Dimethylbenzimidazole (HMDB0003701) | Prostate Tissue | 0.5 (0.0-1.0) umol/g tissue | Abnormal | Adult (>18 years old) | Both | details |
| Ureidosuccinic acid (HMDB0000828) | Prostate Tissue | 0.5 (0.0-1.0) umol/g tissue | Abnormal | Adult (>18 years old) | Both | details |
| N-Acetyl-b-glucosaminylamine (HMDB0001104) | Prostate Tissue | 0.5 (0.0-1.0) umol/g tissue | Abnormal | Adult (>18 years old) | Both | details |
| L-Histidinol (HMDB0003431) | Prostate Tissue | 0.5 (0.0-1.0) umol/g tissue | Abnormal | Adult (>18 years old) | Both | details |
| myo-Inositol 6-phosphate (HMDB0002985) | Prostate Tissue | 0.5 (0.0-1.0) umol/g tissue | Abnormal | Adult (>18 years old) | Both | details |
| Bradykinin (HMDB0004246) | Prostate Tissue | 0.5 (0.0-1.0) umol/g tissue | Abnormal | Adult (>18 years old) | Both | details |
| D-Alanyl-D-alanine (HMDB0003459) | Prostate Tissue | 0.5 (0.0-1.0) umol/g tissue | Abnormal | Adult (>18 years old) | Both | details |
| 1-Kestose (HMDB0011729) | Prostate Tissue | 0.5 (0.0-1.0) umol/g tissue | Abnormal | Adult (>18 years old) | Both | details |
| Orotidylic acid (HMDB0000218) | Prostate Tissue | 0.5 (0.0-1.0) umol/g tissue | Abnormal | Adult (>18 years old) | Both | details |
| UDP-N-acetylmuraminate (HMDB0011720) | Prostate Tissue | 0.5 (0.0-1.0) umol/g tissue | Abnormal | Adult (>18 years old) | Both | details |
| Deoxyuridine triphosphate (HMDB0001191) | Prostate Tissue | 0.5 (0.0-1.0) umol/g tissue | Abnormal | Adult (>18 years old) | Both | details |
| Melezitose (HMDB0011730) | Prostate Tissue | 0.5 (0.0-1.0) umol/g tissue | Abnormal | Adult (>18 years old) | Both | details |
| Methyldopa (HMDB0011754) | Urine | 0.5 (0.0-1.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Sarcosine (HMDB0000271) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Male | details |
| Shikimic acid (HMDB0003070) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Androstanediol (HMDB0000495) | Urine | 0.10 +/- 0.04 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| L-Sorbose (HMDB0001266) | Urine | 0.5 (0.0-1.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| 6-Hydroxynicotinic acid (HMDB0002658) | Urine | 0.5 (0.0-1.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| L-Allothreonine (HMDB0004041) | Urine | 0.5 (0.0-1.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| N-Acetyl-L-alanine (HMDB0000766) | Urine | 0.5 (0.0-1.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| N-Acetyl-L-glutamic acid (HMDB0001138) | Urine | 0.5 (0.0-1.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| N-Formyl-L-methionine (HMDB0001015) | Urine | 0.5 (0.0-1.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
Prosthesis/Missing teeth
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Glycerophosphocholine (HMDB0000086) | Saliva | Not Quantified | Abnormal | Adult (>18 years old) | Male | details |
| Phenylacetic acid (HMDB0000209) | Saliva | Not Quantified | Abnormal | Adult (>18 years old) | Male | details |
| 3-Methyl-2-oxovaleric acid (HMDB0000491) | Saliva | Not Quantified | Abnormal | Adult (>18 years old) | Male | details |
| Hydrocinnamic acid (HMDB0000764) | Saliva | Not Quantified | Abnormal | Adult (>18 years old) | Male | details |
| Propionylcarnitine (HMDB0000824) | Saliva | Not Quantified | Abnormal | Adult (>18 years old) | Male | details |
Proteinuria
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Thyroxine (HMDB0000248) | Urine | 0.0015 +/- 0.00154 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
Protoporphyria, Erythropoietic (177000 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Protoporphyrin IX (HMDB0000241) | Blood | 0-1.244 uM | Abnormal | Adult (>18 years old) | Male | details |
| Coproporphyrin I (HMDB0000643) | Blood | 0 uM | Abnormal | Adult (>18 years old) | Male | details |
| Uroporphyrin I (HMDB0000936) | Blood | 0 uM | Abnormal | Adult (>18 years old) | Male | details |
| Porphobilinogen (HMDB0000245) | Urine | 0.589-0.654 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Male | details |
| Coproporphyrin I (HMDB0000643) | Urine | 0.00326-0.00916 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Male | details |
| Uroporphyrin I (HMDB0000936) | Urine | 0 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Male | details |
| 5-Aminolevulinic acid (HMDB0001149) | Urine | 1.0168-1.373 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Male | details |
Pseudohypoaldosteronism, type I, autosomal dominant (177735 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Creatinine (HMDB0000562) | Blood | 166.198 uM | Abnormal | Newborn (0-30 days old) | Not Available | details |
| Hydrogen carbonate (HMDB0000595) | Blood | 2130.561 uM | Abnormal | Newborn (0-30 days old) | Not Available | details |
| Potassium (HMDB0000586) | Blood | 8200 uM | Abnormal | Newborn (0-30 days old) | Not Available | details |
| Sodium (HMDB0000588) | Blood | 126000 uM | Abnormal | Newborn (0-30 days old) | Not Available | details |
Pseudoneonatal adrenoleukodystrophy (264470 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Hexacosanoic acid (HMDB0002356) | Blood | 7.167 uM | Abnormal | Children (1-13 years old) | Female | details |
| Pipecolic acid (HMDB0000070) | Blood | 0-1.66 uM | Abnormal | Children (1-13 years old) | Both | details |
| Phytanic acid (HMDB0000801) | Blood | 0-6.4 uM | Abnormal | Children (1-13 years old) | Both | details |
| Pipecolic acid (HMDB0000070) | Urine | 0.93-70 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
Pterin-4a carbinolamine dehydratase deficiency (264070 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Phenylalanine (HMDB0000159) | Blood | 39.954 uM | Abnormal | Newborn (0-30 days old) | Female | details |
| Biopterin (HMDB0000468) | Urine | 0.62 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Female | details |
| Neopterin (HMDB0000845) | Urine | 22.6 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Female | details |
Purine nucleoside phosphorylase deficiency (164050 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Deoxyguanosine (HMDB0000085) | Blood | 11.0 (2.0-20.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| Inosine (HMDB0000195) | Blood | 30.0 uM | Abnormal | Adult (>18 years old) | Both | details |
| Deoxyinosine (HMDB0000071) | Urine | 3.2 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Deoxyguanosine (HMDB0000085) | Urine | 177.0-322.0 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Not Specified | details |
| Guanosine (HMDB0000133) | Urine | 35.0 - 2588.0 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Guanosine (HMDB0000133) | Urine | 35-588 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Inosine (HMDB0000195) | Urine | 14000.0 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
Pyridoxamine 5-prime-phosphate oxidase deficiency (610090 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| L-Threonine (HMDB0000167) | Blood | 53-542 uM | Abnormal | Newborn (0-30 days old) | Both | details |
| Glycine (HMDB0000123) | Blood | 228-742 uM | Abnormal | Newborn (0-30 days old) | Both | details |
| 5-Hydroxyindoleacetic acid (HMDB0000763) | Cerebrospinal Fluid (CSF) | 0.151 uM | Abnormal | Newborn (0-30 days old) | Not Specified | details |
| Histidine (HMDB0000177) | Cerebrospinal Fluid (CSF) | 20-29 uM | Abnormal | Newborn (0-30 days old) | Both | details |
| Glycine (HMDB0000123) | Cerebrospinal Fluid (CSF) | 16-66 uM | Abnormal | Newborn (0-30 days old) | Both | details |
| 3-Methoxytyrosine (HMDB0001434) | Cerebrospinal Fluid (CSF) | 0.885-5.604 uM | Abnormal | Newborn (0-30 days old) | Both | details |
| Homovanillic acid (HMDB0000118) | Cerebrospinal Fluid (CSF) | 0.151-0.490 uM | Abnormal | Newborn (0-30 days old) | Both | details |
| Homovanillic acid (HMDB0000118) | Cerebrospinal Fluid (CSF) | 0.49 uM | Abnormal | Newborn (0-30 days old) | Not Specified | details |
| Homovanillic acid (HMDB0000118) | Cerebrospinal Fluid (CSF) | 0.292 uM | Abnormal | Newborn (0-30 days old) | Not Specified | details |
| Homovanillic acid (HMDB0000118) | Cerebrospinal Fluid (CSF) | 0.155 uM | Abnormal | Newborn (0-30 days old) | Not Specified | details |
| Homovanillic acid (HMDB0000118) | Cerebrospinal Fluid (CSF) | 0.654 uM | Abnormal | Newborn (0-30 days old) | Not Specified | details |
| 5-Hydroxyindoleacetic acid (HMDB0000763) | Cerebrospinal Fluid (CSF) | 0.22725 (0.117-0.519) uM | Abnormal | Newborn (0-30 days old) | Not Specified | details |
| 5-Hydroxyindoleacetic acid (HMDB0000763) | Cerebrospinal Fluid (CSF) | 0.117 uM | Abnormal | Newborn (0-30 days old) | Not Specified | details |
| 5-Hydroxyindoleacetic acid (HMDB0000763) | Cerebrospinal Fluid (CSF) | 0.122 uM | Abnormal | Newborn (0-30 days old) | Not Specified | details |
| 5-Hydroxyindoleacetic acid (HMDB0000763) | Cerebrospinal Fluid (CSF) | 0.519 uM | Abnormal | Newborn (0-30 days old) | Not Specified | details |
| Pyridoxal 5'-phosphate (HMDB0001491) | Cerebrospinal Fluid (CSF) | 0.018 uM | Abnormal | Newborn (0-30 days old) | Not Specified | details |
| Pyridoxal 5'-phosphate (HMDB0001491) | Cerebrospinal Fluid (CSF) | 0.014 uM | Abnormal | Newborn (0-30 days old) | Not Specified | details |
| Pyridoxal 5'-phosphate (HMDB0001491) | Cerebrospinal Fluid (CSF) | 0.012 uM | Abnormal | Newborn (0-30 days old) | Not Specified | details |
| Pyridoxal 5'-phosphate (HMDB0001491) | Cerebrospinal Fluid (CSF) | 0.0036 uM | Abnormal | Newborn (0-30 days old) | Not Specified | details |
| Homovanillic acid (HMDB0000118) | Cerebrospinal Fluid (CSF) | 0.39773 (0.155-0.654) uM | Abnormal | Newborn (0-30 days old) | Not Specified | details |
| Pyridoxal 5'-phosphate (HMDB0001491) | Cerebrospinal Fluid (CSF) | 0.0119 (0.0036-0.018) uM | Abnormal | Newborn (0-30 days old) | Not Specified | details |
| 3-Methoxytyrosine (HMDB0001434) | Cerebrospinal Fluid (CSF) | 1.17625 (0.59-2.86) uM | Abnormal | Newborn (0-30 days old) | Not Specified | details |
Pyridoxine-dependent epilepsy (266100 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Pipecolic acid (HMDB0000070) | Blood | 2.8-23 uM | Abnormal | Infant (0-1 year old) | Not Specified | details |
| gamma-Aminobutyric acid (HMDB0000112) | Cerebrospinal Fluid (CSF) | 0.016 uM | Abnormal | Infant (0-1 year old) | Not Specified | details |
| Allysine (HMDB0001263) | Urine | 1.6-28 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Not Specified | details |
Pyruvate carboxylase deficiency (266150 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Lactic acid (HMDB0000190) | Blood | 11300 uM | Abnormal | Children (1-13 years old) | Not Available | details |
| Lactic acid (HMDB0000190) | Blood | 17000 uM | Abnormal | Infant (0-1 year old) | Not Available | details |
| Ammonia (HMDB0000051) | Blood | 70 uM | Abnormal | Children (1-13 years old) | Not Available | details |
| Ammonia (HMDB0000051) | Blood | 268 uM | Abnormal | Infant (0-1 year old) | Not Available | details |
| L-Alanine (HMDB0000161) | Blood | 958 uM | Abnormal | Infant (0-1 year old) | Not Available | details |
| L-Alanine (HMDB0000161) | Blood | 298 uM | Abnormal | Children (1-13 years old) | Not Available | details |
| Proline (HMDB0000162) | Blood | 801 uM | Abnormal | Infant (0-1 year old) | Not Available | details |
| Proline (HMDB0000162) | Blood | 114 uM | Abnormal | Children (1-13 years old) | Not Available | details |
| Lysine (HMDB0000182) | Blood | 713 uM | Abnormal | Infant (0-1 year old) | Not Available | details |
| Lysine (HMDB0000182) | Blood | 136 uM | Abnormal | Children (1-13 years old) | Not Available | details |
| Lactic acid (HMDB0000190) | Urine | >75000 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Not Available | details |
| Lactic acid (HMDB0000190) | Urine | 59000 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Not Available | details |
| 3-Hydroxybutyric acid (HMDB0000011) | Urine | 45000 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Not Available | details |
| 3-Hydroxybutyric acid (HMDB0000011) | Urine | 8359 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Not Available | details |
Pyruvate dehydrogenase deficiency (312170 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Lactic acid (HMDB0000190) | Blood | 7020 +/- 5800 uM | Abnormal | Children (1-13 years old) | Both | details |
| Pyruvic acid (HMDB0000243) | Blood | 560 +/- 830 uM | Abnormal | Children (1-13 years old) | Both | details |
| Lactic acid (HMDB0000190) | Cerebrospinal Fluid (CSF) | 6070 +/- 3000 uM | Abnormal | Children (1-13 years old) | Both | details |
| Pyruvic acid (HMDB0000243) | Cerebrospinal Fluid (CSF) | 480 +/- 270 uM | Abnormal | Children (1-13 years old) | Both | details |
| 2-Hydroxybutyric acid (HMDB0000008) | Urine | >25.0 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
Pyruvate dehydrogenase deficiency (E1)
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Lactic acid (HMDB0000190) | Blood | 9900 +/- 8200 uM | Abnormal | Children (1-13 years old) | Both | details |
| Pyruvic acid (HMDB0000243) | Blood | 670 +/- 990 uM | Abnormal | Children (1-13 years old) | Both | details |
| Lactic acid (HMDB0000190) | Cerebrospinal Fluid (CSF) | 5900 +/- 4500 uM | Abnormal | Children (1-13 years old) | Both | details |
| Pyruvic acid (HMDB0000243) | Cerebrospinal Fluid (CSF) | 570 +/- 400 uM | Abnormal | Children (1-13 years old) | Both | details |
Pyruvate dehydrogenase phosphatase deficiency (608782 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Hydrogen carbonate (HMDB0000595) | Blood | 3500 uM | Abnormal | Infant (0-1 year old) | Male | details |
| Acetoacetic acid (HMDB0000060) | Blood | 360 uM | Abnormal | Infant (0-1 year old) | Male | details |
| L-Alanine (HMDB0000161) | Blood | 1000 uM | Abnormal | Infant (0-1 year old) | Male | details |
| Lactic acid (HMDB0000190) | Blood | 15000 uM | Abnormal | Infant (0-1 year old) | Male | details |
| Pyruvic acid (HMDB0000243) | Blood | 400 uM | Abnormal | Infant (0-1 year old) | Male | details |
| 3-Hydroxybutyric acid (HMDB0000011) | Blood | 1800 uM | Abnormal | Infant (0-1 year old) | Male | details |
Quetiapine poisoning
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Quetiapine (HMDB0005021) | Blood | 20.7 (1.04-198.0) uM | Abnormal | Adult (>18 years old) | Both | details |
Rachialgia
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Guanosine diphosphate (HMDB0001201) | Cerebrospinal Fluid (CSF) | 2.11 +/- 1.93 uM | Abnormal | Adult (>18 years old) | Both | details |
| Guanosine triphosphate (HMDB0001273) | Cerebrospinal Fluid (CSF) | 1.59 +/- 1.42 uM | Abnormal | Adult (>18 years old) | Both | details |
| ADP (HMDB0001341) | Cerebrospinal Fluid (CSF) | 1.10 +/- 0.60 uM | Abnormal | Adult (>18 years old) | Both | details |
| Adenosine triphosphate (HMDB0000538) | Cerebrospinal Fluid (CSF) | 0.23 +/- 0.19 uM | Abnormal | Adult (>18 years old) | Both | details |
Refractory anemia
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| AICA-riboside (HMDB0062179) | Urine | 0.025 +/- 0.015 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
Refractory localization-related epilepsy
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| L-Cystine (HMDB0000192) | Blood | 37.2 (34.6-39.8) uM | Abnormal | Adult (>18 years old) | Both | details |
| Glycine (HMDB0000123) | Blood | 210.0 (203.0-217.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| Lysine (HMDB0000182) | Blood | 128.0 +/- 9.0 uM | Abnormal | Adult (>18 years old) | Both | details |
| Serine (HMDB0000187) | Blood | 104.0 (101.0-107.0) uM | Abnormal | Adult (>18 years old) | Both | details |
Refsum's disease (266500 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Phytanic acid (HMDB0000801) | Blood | 410.0 (46.0-1127.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| Pipecolic acid (HMDB0000070) | Blood | <3.871 uM | Abnormal | Infant (0-1 year old) | Not Specified | details |
| 3alpha,7alpha-Dihydroxycoprostanic acid (HMDB0000359) | Blood | 0.403 - 0.842 uM | Abnormal | Children (1 - 13 years old) | Male | details |
| Coprocholic acid (HMDB0000601) | Blood | 0.719 - 0.828 uM | Abnormal | Children (1 - 13 years old) | Male | details |
| Phytanic acid (HMDB0000801) | Blood | 1439.86 uM | Abnormal | Infant (0-1 year old) | Not Specified | details |
| Phytanic acid (HMDB0000801) | Blood | 6335.384 uM | Abnormal | Infant (0-1 year old) | Not Specified | details |
| Phytanic acid (HMDB0000801) | Blood | 0-2335.773 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| Methylsuccinic acid (HMDB0001844) | Urine | 1.9 (1.3-2.5) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| 3-Methyladipic acid (HMDB0000555) | Urine | 5.9 (3.0-8.5) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
Renal tubular acidosis, distal, RTA type 1 (179800 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Chloride ion (HMDB0000492) | Blood | 110000 uM | Abnormal | Adolescent (13-18 years old) | Both | details |
| Chloride ion (HMDB0000492) | Blood | 102000-140000 uM | Abnormal | Infant (0-1 year old) | Both | details |
| Chloride ion (HMDB0000492) | Blood | 110000-116000 uM | Abnormal | Newborn (0-30 days old) | Both | details |
| Chloride ion (HMDB0000492) | Blood | 111000-114000 uM | Abnormal | Adult (>18 years old) | Both | details |
| Chloride ion (HMDB0000492) | Blood | 94000-116000 uM | Abnormal | Children (1-13 years old) | Both | details |
| Potassium (HMDB0000586) | Blood | 3400 uM | Abnormal | Adolescent (13-18 years old) | Both | details |
| Potassium (HMDB0000586) | Blood | 1580-4500 uM | Abnormal | Children (1-13 years old) | Both | details |
| Potassium (HMDB0000586) | Blood | 2100-3200 uM | Abnormal | Infant (0-1 year old) | Both | details |
| Potassium (HMDB0000586) | Blood | 2200-4500 uM | Abnormal | Newborn (0-30 days old) | Both | details |
| Potassium (HMDB0000586) | Blood | 3300-4600 uM | Abnormal | Adult (>18 years old) | Both | details |
| Hydrogen carbonate (HMDB0000595) | Blood | 20100 uM | Abnormal | Adolescent (13-18 years old) | Both | details |
| Hydrogen carbonate (HMDB0000595) | Blood | 17800-19500 uM | Abnormal | Adult (>18 years old) | Both | details |
| Hydrogen carbonate (HMDB0000595) | Blood | 4800-15000 uM | Abnormal | Infant (0-1 year old) | Both | details |
| Hydrogen carbonate (HMDB0000595) | Blood | 5500-13000 uM | Abnormal | Newborn (0-30 days old) | Both | details |
| Hydrogen carbonate (HMDB0000595) | Blood | 6300-19500 uM | Abnormal | Children (1-13 years old) | Both | details |
Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (604278 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Hydrogen carbonate (HMDB0000595) | Blood | 12700 uM | Abnormal | Adolescent (13-18 years old) | Female | details |
| Aldosterone (HMDB0000037) | Blood | 0.0013 uM | Abnormal | Adolescent (13-18 years old) | Female | details |
| Angiotensin II (HMDB0001035) | Blood | 0.00169 uM | Abnormal | Adolescent (13-18 years old) | Female | details |
| Angiotensin I (HMDB0061196) | Blood | 0.017 uM | Abnormal | Adolescent (13-18 years old) | Female | details |
| Hydrogen carbonate (HMDB0000595) | Urine | 3060 umol/mmol creatinine | Abnormal | Adolescent (13-18 years old) | Female | details |
Rett syndrome (312750 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| 5-Methyltetrahydrofolic acid (HMDB0001396) | Cerebrospinal Fluid (CSF) | 0.053 (0.02 - 0.09) uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| Glutamic acid (HMDB0000148) | Cerebrospinal Fluid (CSF) | 0.213-0.539 uM | Abnormal | Children (1-13 years old) | Female | details |
| Glutamic acid (HMDB0000148) | Cerebrospinal Fluid (CSF) | 0.252-0.332 uM | Abnormal | Adolescent (13-18 years old) | Female | details |
Reye's syndrome
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Aflatoxin B1 (HMDB0006552) | Blood | 0.009 (0.008-0.014) uM | Abnormal | Adult (>18 years old) | Both | details |
Rhabdomyolysis
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Citric acid (HMDB0000094) | Urine | 154 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Female | details |
| Trimethylamine N-oxide (HMDB0000925) | Urine | 143 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Female | details |
| Dimethylamine (HMDB0000087) | Urine | 52 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Female | details |
| Creatine (HMDB0000064) | Urine | 1540 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Female | details |