Browsing Diseases
Displaying diseases 451 - 475 of 660 in total
Mitochondrial complex I deficiency due to ACAD9 deficiency (611126 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Salicylic acid (HMDB0001895) | Blood | 1679.674 uM | Abnormal | Adolescent (13-18 years old) | Male | details |
| Lactic acid (HMDB0000190) | Blood | 10800 uM | Abnormal | Adolescent (13-18 years old) | Male | details |
| Ammonia (HMDB0000051) | Blood | >700 uM | Abnormal | Adolescent (13-18 years old) | Male | details |
Mitochondrial encephalomyopaththy with elevanted methylmalonic acid, SUCLA2 (612073 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Methylmalonic acid (HMDB0000202) | Blood | 0.8-33 uM | Abnormal | Children (1-13 years old) | Both | details |
| Lactic acid (HMDB0000190) | Cerebrospinal Fluid (CSF) | 2200-6300 uM | Abnormal | Children (1-13 years old) | Both | details |
| Methylmalonic acid (HMDB0000202) | Urine | 51-212 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
Mitochondrial Myopathy, Infantile, Transient (500009 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Lactic acid (HMDB0000190) | Blood | 9600 uM | Abnormal | Infant (0-1 year old) | Male | details |
Mitochondrial phosphate carrier deficiency (610773 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Lactic acid (HMDB0000190) | Blood | 4000-14000 uM | Abnormal | Newborn (0-30 days old) | Female | details |
Mitochondrial pyruvate carrier deficiency (614741 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Lactic acid (HMDB0000190) | Blood | 7000-8000 uM | Abnormal | Newborn (0-30 days old) | Female | details |
| Pyruvic acid (HMDB0000243) | Blood | 800-900 uM | Abnormal | Newborn (0-30 days old) | Female | details |
| L-Alanine (HMDB0000161) | Blood | 233-331 uM | Abnormal | Newborn (0-30 days old) | Female | details |
| Proline (HMDB0000162) | Blood | 149-233 uM | Abnormal | Newborn (0-30 days old) | Female | details |
Mitochondrial trifunctional protein deficiency (609015 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| D-Glucose (HMDB0000122) | Blood | 700-2600 uM | Abnormal | Infant (0-1 year old) | Not Specified | details |
| Lactic acid (HMDB0000190) | Blood | 3700-36000 uM | Abnormal | Infant (0-1 year old) | Not Available | details |
| Calcium (HMDB0000464) | Blood | 1290-1860 uM | Abnormal | Infant (0-1 year old) | Not Available | details |
| Ammonia (HMDB0000051) | Blood | 140-503 uM | Abnormal | Infant (0-1 year old) | Not Available | details |
| L-Carnitine (HMDB0000062) | Blood | 10-21 uM | Abnormal | Infant (0-1 year old) | Not Available | details |
| alpha-D-Glucose (HMDB0003345) | Blood | 700-2600 uM | Abnormal | Infant (0-1 year old) | Not Specified | details |
| Traumatic acid (HMDB0000933) | Urine | Not Quantified | Abnormal | Not Available | Not Available | details |
Mitochondrial-encephalopathy-lactic acidosis-stroke (540000 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Lactic acid (HMDB0000190) | Blood | 4500-9800 uM | Abnormal | Children (1-13 years old) | Both | details |
Molybdenium co-factor deficiency (252150 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Uric acid (HMDB0000289) | Blood | 23 uM | Abnormal | Infant (0-1 year old) | Female | details |
| Xanthine (HMDB0000292) | Blood | 18 uM | Abnormal | Infant (0-1 year old) | Female | details |
| Homocysteine (HMDB0000742) | Blood | 0.9 uM | Abnormal | Children (1-13 years old) | Male | details |
| Sulfite (HMDB0000240) | Urine | 500 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Female | details |
| Uric acid (HMDB0000289) | Urine | 29 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Female | details |
| Xanthine (HMDB0000292) | Urine | 48 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Female | details |
| Xanthine (HMDB0000292) | Urine | 259 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Male | details |
| Uracil (HMDB0000300) | Urine | 48 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Male | details |
Molybdenum cofactor deficiency
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Uric acid (HMDB0000289) | Blood | <59.485 uM | Abnormal | Newborn (0-30 days old) | Female | details |
| Uric acid (HMDB0000289) | Blood | 23.794-178.454 uM | Abnormal | Infant (0-1 year old) | Both | details |
| Homocysteine (HMDB0000742) | Blood | <1.000 uM | Abnormal | Newborn (0-30 days old) | Female | details |
| Sulfate (HMDB0001448) | Urine | 857 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Not Specified | details |
| Allopurinol (HMDB0014581) | Urine | 630 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Sulfate (HMDB0001448) | Urine | 186 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Not Specified | details |
| Cysteine-S-sulfate (HMDB0000731) | Urine | 323-580 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Both | details |
| Cysteine-S-sulfate (HMDB0000731) | Urine | 338 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Not Specified | details |
| Cysteine-S-sulfate (HMDB0000731) | Urine | 171 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Not Specified | details |
| Xanthine (HMDB0000292) | Urine | 529-1713 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Both | details |
| Xanthine (HMDB0000292) | Urine | 991 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Not Specified | details |
| Xanthine (HMDB0000292) | Urine | 228 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Not Specified | details |
| Uric acid (HMDB0000289) | Urine | 20 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Not Specified | details |
| Uric acid (HMDB0000289) | Urine | 5 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Not Specified | details |
| Thiosulfate (HMDB0000257) | Urine | 263 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Not Specified | details |
| Thiosulfate (HMDB0000257) | Urine | 53 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Not Specified | details |
| Taurine (HMDB0000251) | Urine | 1261 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Not Specified | details |
| Taurine (HMDB0000251) | Urine | 466 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Not Specified | details |
| Sulfite (HMDB0000240) | Urine | 66 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Not Specified | details |
| Sulfite (HMDB0000240) | Urine | 24 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Not Specified | details |
| L-Cystine (HMDB0000192) | Urine | 7 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Not Specified | details |
| L-Cystine (HMDB0000192) | Urine | 0 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Not Specified | details |
| Hypoxanthine (HMDB0000157) | Urine | 88 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Not Specified | details |
| Hypoxanthine (HMDB0000157) | Urine | 46 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Not Specified | details |
Monocarboxylate transporter 1 deficiency (616095 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Hydrogen carbonate (HMDB0000595) | Blood | 5000-15000 uM | Abnormal | Children (1-13 years old) | Male | details |
Motor neuron disease
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Nitrite (HMDB0002786) | Cerebrospinal Fluid (CSF) | 5.82 +/- 3.2 uM | Abnormal | Adult (>18 years old) | Both | details |
| Biotin (HMDB0000030) | Cerebrospinal Fluid (CSF) | 0.000545 (0.00004799-0.00192) uM | Abnormal | Not Specified | Not Specified | details |
| Vasopressin (HMDB0001980) | Cerebrospinal Fluid (CSF) | 0.0000025 +/- 0.0000004 uM | Abnormal | Adult (>18 years old) | Both | details |
Mucopolysaccharidosis IVA (253000 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Keratan (HMDB0001165) | Blood | 0.75 (0.10-1.44) uM | Abnormal | Adult (>18 years old) | Both | details |
Multi-infarct dementia
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Acetylcholine (HMDB0000895) | Cerebrospinal Fluid (CSF) | 0.016 +/- 0.007 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| Glycerophosphocholine (HMDB0000086) | Cerebrospinal Fluid (CSF) | 4.03 (2.51-5.55) uM | Abnormal | Adult (>18 years old) | Both | details |
| Vanylglycol (HMDB0001490) | Cerebrospinal Fluid (CSF) | 0.044 (0.032-0.056) uM | Abnormal | Adult (>18 years old) | Both | details |
| Vanylglycol (HMDB0001490) | Cerebrospinal Fluid (CSF) | 0.039 (0.027-0.051) uM | Abnormal | Adult (>18 years old) | Both | details |
| Vanylglycol (HMDB0001490) | Cerebrospinal Fluid (CSF) | 0.044 (0.035-0.053) uM | Abnormal | Adult (>18 years old) | Both | details |
| Vanylglycol (HMDB0001490) | Cerebrospinal Fluid (CSF) | 0.048 (0.035-0.061) uM | Abnormal | Adult (>18 years old) | Both | details |
| Pentosidine (HMDB0003933) | Cerebrospinal Fluid (CSF) | 22.5 (21.0-24.0) uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| Choline (HMDB0000097) | Cerebrospinal Fluid (CSF) | 1.46 +/- 0.54 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| Glycerophosphocholine (HMDB0000086) | Cerebrospinal Fluid (CSF) | 4.03 +/- 1.52 uM | Abnormal | Elderly (>65 years old) | Not Specified | details |
| Phosphorylcholine (HMDB0001565) | Cerebrospinal Fluid (CSF) | 2.32 +/- 0.38 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
Multiple acyl-CoA dehydrogenase deficiency (231680 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| 5Z-Tetradecenoic acid (HMDB0000521) | Blood | 68 +/- 85 uM | Abnormal | Children (1-13 years old) | Both | details |
Multiple carboxylase deficiency
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| 3-Hydroxyisovalerylcarnitine (HMDB0061189) | Blood | 0.36 uM | Abnormal | Infant (0-1 year old) | Female | details |
| 3-Hydroxyisovalerylcarnitine (HMDB0061189) | Blood | 3.56 uM | Abnormal | Children (1-13 years old) | Female | details |
| 3-Hydroxyisovalerylcarnitine (HMDB0061189) | Urine | 18.67 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Female | details |
| 3-Hydroxyisovalerylcarnitine (HMDB0061189) | Urine | 80.88 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Female | details |
Multiple myeloma (254500 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Deoxypyridinoline (HMDB0000569) | Urine | 0.015 (0.001 - 0.03) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Not Specified | details |
Multiple sclerosis (126200 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Tin (HMDB0001960) | Blood | 0.016 +/- 0.009 uM | Abnormal | Adult (>18 years old) | Both | details |
| Chromium (HMDB0000599) | Blood | 0.0069 +/- 0.0035 uM | Abnormal | Adult (>18 years old) | Both | details |
| Copper (HMDB0000657) | Blood | 22.96 +/- 7.64 uM | Abnormal | Adult (>18 years old) | Both | details |
| Mercury (HMDB0003625) | Blood | 0.019 +/- 0.012 uM | Abnormal | Adult (>18 years old) | Both | details |
| Lithium (HMDB0005949) | Blood | 0.12 +/- 0.05 uM | Abnormal | Adult (>18 years old) | Both | details |
| Magnesium (HMDB0000547) | Blood | 1534 +/- 242 uM | Abnormal | Adult (>18 years old) | Both | details |
| Manganese (HMDB0001333) | Blood | 0.15 +/- .072 uM | Abnormal | Adult (>18 years old) | Both | details |
| Molybdenum (HMDB0001302) | Blood | 0.022 +/- 0.0085 uM | Abnormal | Adult (>18 years old) | Both | details |
| Nickel (HMDB0002457) | Blood | 0.022 +/- 0.011 uM | Abnormal | Adult (>18 years old) | Both | details |
| Lead (HMDB0004628) | Blood | 0.12 +/- 0.061 uM | Abnormal | Adult (>18 years old) | Both | details |
| Antimony (HMDB0004118) | Blood | 0.0055 +/- 0.0038 uM | Abnormal | Adult (>18 years old) | Both | details |
| Silicon (HMDB0002175) | Blood | 7.83 +/- 5.05 uM | Abnormal | Adult (>18 years old) | Both | details |
| Fe2+ (HMDB0000692) | Blood | 8631 +/- 1497 uM | Abnormal | Adult (>18 years old) | Both | details |
| Strontium (HMDB0003642) | Blood | 0.27 +/- 0.09 uM | Abnormal | Adult (>18 years old) | Both | details |
| Vanadium (HMDB0002503) | Blood | 0.0018 +/- 0.00059 uM | Abnormal | Adult (>18 years old) | Both | details |
| Tungsten (HMDB0001989) | Blood | 0.00038 +/- 0.00022 uM | Abnormal | Adult (>18 years old) | Both | details |
| Zinc (HMDB0015532) | Blood | 93.8 +/- 23.3 uM | Abnormal | Adult (>18 years old) | Both | details |
| Homocysteine (HMDB0000742) | Blood | 10.7 (7.6-14.4) uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| L-Cysteine (HMDB0000574) | Blood | 0.355 (0.157-1.146) uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| Uric acid (HMDB0000289) | Blood | 193.89 +/- 49.05 uM | Abnormal | Adult (>18 years old) | Both | details |
| Barium (HMDB0004142) | Blood | 0.0104 +/- 0.00517 uM | Abnormal | Adult (>18 years old) | Both | details |
| Thallium (HMDB0013724) | Blood | 0.0029 +/- 0.0046 uM | Abnormal | Adult (>18 years old) | Both | details |
| Antimony (HMDB0004118) | Blood | 0.0055 +/- 0.0039 uM | Abnormal | Adult (>18 years old) | Both | details |
| Cadmium (HMDB0003638) | Blood | 0.0097 +/- 0.0049 uM | Abnormal | Adult (>18 years old) | Both | details |
| Calcium (HMDB0000464) | Blood | 1637 +/- 282 uM | Abnormal | Adult (>18 years old) | Both | details |
| Cobalt (HMDB0000608) | Blood | 0.0037 +/- 0.0017 uM | Abnormal | Adult (>18 years old) | Both | details |
| Bismuth (HMDB0002196) | Blood | 0.00019 +/- 0.0001 uM | Abnormal | Adult (>18 years old) | Both | details |
| Barium (HMDB0004142) | Blood | 0.0103 +/- 0.00079 uM | Abnormal | Adult (>18 years old) | Both | details |
| Aluminum (HMDB0001247) | Blood | 0.89 +/- 0.79 uM | Abnormal | Adult (>18 years old) | Both | details |
| Ubiquinone-1 (HMDB0002012) | Blood | 0.00084 +/- 0.00040 uM | Abnormal | Adult (>18 years old) | Both | details |
| Neopterin (HMDB0000845) | Blood | 0.0050 +/- 0.0028 uM | Abnormal | Adult (>18 years old) | Both | details |
| Homocysteine (HMDB0000742) | Cerebrospinal Fluid (CSF) | 0.08 (0.05-0.16) uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| 27-Hydroxycholesterol (HMDB0002103) | Cerebrospinal Fluid (CSF) | 0.0026 +/- 0.0002 uM | Abnormal | Adult (>18 years old) | Both | details |
| Glutathione (HMDB0000125) | Cerebrospinal Fluid (CSF) | 4.56 +/- 0.7 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| 7-Ketocholesterol (HMDB0000501) | Cerebrospinal Fluid (CSF) | 0.003(0.001-0.01) uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| Biotin (HMDB0000030) | Cerebrospinal Fluid (CSF) | 0.000324 +/- 0.000107 uM | Abnormal | Not Specified | Not Specified | details |
| Cobalamin (HMDB0002174) | Cerebrospinal Fluid (CSF) | 0.00002100 +/- 0.000007301 uM | Abnormal | Adult (>18 years old) | Both | details |
| Angiotensin II (HMDB0001035) | Cerebrospinal Fluid (CSF) | 0.0000030000 +/- 0.000001597 uM | Abnormal | Adult (>18 years old) | Both | details |
| Malondialdehyde (HMDB0006112) | Cerebrospinal Fluid (CSF) | 0.22 +/- 0.06 uM | Abnormal | Not Specified | Not Specified | details |
| Angiotensin II (HMDB0001035) | Cerebrospinal Fluid (CSF) | 0.000003625 +/- 0.000001473 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| 7beta-Hydroxycholesterol (HMDB0006119) | Cerebrospinal Fluid (CSF) | 0.004 +/- 0.0017 uM | Abnormal | Adult (>18 years old) | Both | details |
| 7alpha-Hydroxycholesterol (HMDB0001496) | Cerebrospinal Fluid (CSF) | 0.005 +/- 0.0021 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| Glutathione (HMDB0000125) | Cerebrospinal Fluid (CSF) | 2.58 +/- 1.2 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| Oxidized glutathione (HMDB0003337) | Cerebrospinal Fluid (CSF) | 0.065 +/- 0.01 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| Oxidized glutathione (HMDB0003337) | Cerebrospinal Fluid (CSF) | 0.044 +/- 0.01 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| Neopterin (HMDB0000845) | Cerebrospinal Fluid (CSF) | 0.0091 +/- 0.0074 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| Peroxynitrite (HMDB0002179) | Cerebrospinal Fluid (CSF) | 0.28 +/- 0.02 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| Peroxynitrite (HMDB0002179) | Cerebrospinal Fluid (CSF) | 0.20 +/- 0.03 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| 24-Hydroxycholesterol (HMDB0001419) | Cerebrospinal Fluid (CSF) | 0.004 +/- 0.0013 uM | Abnormal | Adult (>18 years old) | Both | details |
| 27-Hydroxycholesterol (HMDB0002103) | Cerebrospinal Fluid (CSF) | 0.003 +/- 0.0008 uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Cysteine (HMDB0000574) | Cerebrospinal Fluid (CSF) | 0.042 (0.022-0.10) uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| Cholesterol (HMDB0000067) | Cerebrospinal Fluid (CSF) | 10.9 +/- 2.7 uM | Abnormal | Adult (>18 years old) | Both | details |
| Acetic acid (HMDB0000042) | Cerebrospinal Fluid (CSF) | 35.3 - 211.7 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
Multiple system atrophy
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| (R)-Salsolinol (HMDB0005199) | Cerebrospinal Fluid (CSF) | 0.004 +/- 0.001 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| (S)-N-Methylsalsolinol (HMDB0003892) | Cerebrospinal Fluid (CSF) | 0.0035 +/- 0.001 (0.002 - 0.005) uM | Abnormal | Adult (>18 years old) | Not Specified | details |
Mycobacterium tuberculosis
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Tuberculostearic acid (HMDB0004085) | Cerebrospinal Fluid (CSF) | Not Quantified | Abnormal | Adult (>18 years old) | Not Specified | details |
Myoadenylate deaminase deficiency (102770 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Traumatic acid (HMDB0000933) | Urine | Not Quantified | Abnormal | Not Available | Not Available | details |
Myocardial infarction
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Phenylalanine (HMDB0000159) | Blood | 101.0 (97.0-105.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Tyrosine (HMDB0000158) | Blood | 74.0 (71.0-77.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| 3-Chlorotyrosine (HMDB0001885) | Blood | 0.58 +/- 0.18 uM | Abnormal | Adult (>18 years old) | Both | details |
| Tetrahydrobiopterin (HMDB0000027) | Blood | 0.0044 +/- 0.0007 uM | Abnormal | Adult (>18 years old) | Both | details |
Myoclonic epilepsy and ragged red fiber disease (545000 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Lactic acid (HMDB0000190) | Blood | 1820.646-5273.214 uM | Abnormal | Adult (>18 years old) | Both | details |
| Lactic acid (HMDB0000190) | Cerebrospinal Fluid (CSF) | 2109.285-6527.683 uM | Abnormal | Adult (>18 years old) | Both | details |
Myopathic carnitine deficiency (212160 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| L-Carnitine (HMDB0000062) | Blood | 20.6-33.8 uM | Abnormal | Adult (>18 years old) | Female | details |
| L-Carnitine (HMDB0000062) | Urine | 9.395-121.200 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Female | details |
Myopathy with lactic acidosis, hereditary (255125 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Lactic acid (HMDB0000190) | Blood | 1400 (900-1800) uM | Abnormal | Adult (>18 years old) | Both | details |
| Lactic acid (HMDB0000190) | Blood | 8600 (6700-13600) uM | Abnormal | Adult (>18 years old) | Both | details |
| Lactic acid (HMDB0000190) | Blood | 5100 (3500-6400) uM | Abnormal | Adult (>18 years old) | Both | details |
| Pyruvic acid (HMDB0000243) | Blood | 150 (120-170) uM | Abnormal | Adult (>18 years old) | Both | details |
| Pyruvic acid (HMDB0000243) | Blood | 1090 (650-1520) uM | Abnormal | Adult (>18 years old) | Both | details |
| Pyruvic acid (HMDB0000243) | Blood | 710 uM | Abnormal | Adult (>18 years old) | Both | details |
Myopathy, lactic acidosis, and sideroblastic anemia 1 (600462 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Ornithine (HMDB0000214) | Blood | 191 uM | Abnormal | Newborn (0-30 days old) | Male | details |
| Citrulline (HMDB0000904) | Blood | 0-19 uM | Abnormal | Infant (0-1 year old) | Both | details |
| Citrulline (HMDB0000904) | Blood | 3-5 uM | Abnormal | Children (1-13 years old) | Male | details |
| Citrulline (HMDB0000904) | Blood | 13 uM | Abnormal | Newborn (0-30 days old) | Male | details |
| L-Arginine (HMDB0000517) | Blood | 18-156 uM | Abnormal | Infant (0-1 year old) | Both | details |
| L-Arginine (HMDB0000517) | Blood | 24-47 uM | Abnormal | Children (1-13 years old) | Male | details |
| L-Arginine (HMDB0000517) | Blood | 99 uM | Abnormal | Newborn (0-30 days old) | Male | details |
| Ornithine (HMDB0000214) | Blood | 20-153 uM | Abnormal | Infant (0-1 year old) | Both | details |
| Ornithine (HMDB0000214) | Blood | 23-54 uM | Abnormal | Children (1-13 years old) | Male | details |
| Lactic acid (HMDB0000190) | Blood | 9200-10000 uM | Abnormal | Children (1-13 years old) | Both | details |
| Ammonia (HMDB0000051) | Blood | 110-270 uM | Abnormal | Newborn (0-30 days old) | Male | details |
| Hydrogen carbonate (HMDB0000595) | Blood | 11000-15000 uM | Abnormal | Newborn (0-30 days old) | Male | details |
| Lactic acid (HMDB0000190) | Blood | 3800 uM | Abnormal | Infant (0-1 year old) | Female | details |
| Lactic acid (HMDB0000190) | Blood | 7000-16000 uM | Abnormal | Newborn (0-30 days old) | Male | details |
| Lactic acid (HMDB0000190) | Blood | 1420-12480 uM | Abnormal | Children (1-13 years old) | Both | details |
| Lactic acid (HMDB0000190) | Cerebrospinal Fluid (CSF) | 4400-5400 uM | Abnormal | Infant (0-1 year old) | Both | details |
| Lactic acid (HMDB0000190) | Cerebrospinal Fluid (CSF) | 6000 uM | Abnormal | Newborn (0-30 days old) | Male | details |