Browsing Diseases
11-beta-Hydroxylase deficiency (202010 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| 21-Deoxycortisol (HMDB0004030) | Blood | 0.00110 (0.00081 - 0.00196) uM | Abnormal | Adult (>18 years old) | Both | details |
| CE(22:5(7Z,10Z,13Z,16Z,19Z)) (HMDB0010375) | Blood | 3.23 +/- 3.67 uM | Abnormal | Adult (>18 years old) | Both | details |
| Vaccenic acid (HMDB0003231) | Blood | 6.390 +/- 4.279 uM | Abnormal | Adult (>18 years old) | Both | details |
| Fructosamine (HMDB0002030) | Blood | 192 (149-242) uM | Abnormal | Adult (>18 years old) | Both | details |
| Cortexolone (HMDB0000015) | Blood | 1.3 uM | Abnormal | Newborn (0-30 days old) | Female | details |
| Cortexolone (HMDB0000015) | Blood | 1.84 uM | Abnormal | Infant (0-1 year old) | Female | details |
| Cortexolone (HMDB0000015) | Blood | 0.00790-0.329 uM | Abnormal | Children (1-13 years old) | Both | details |
| Androstenedione (HMDB0000053) | Blood | 0.12 uM | Abnormal | Newborn (0-30 days old) | Female | details |
| 17-Hydroxyprogesterone (HMDB0000374) | Blood | 0.00130-0.0591 uM | Abnormal | Children (1-13 years old) | Both | details |
| 17-Hydroxyprogesterone (HMDB0000374) | Blood | 0.216-0.265 uM | Abnormal | Newborn (0-30 days old) | Female | details |
| Androstenedione (HMDB0000053) | Blood | 0.00360-0.0227 uM | Abnormal | Children (1-13 years old) | Both | details |
| Testosterone (HMDB0000234) | Blood | 0.00150-0.00420 uM | Abnormal | Children (1-13 years old) | Both | details |
| Dehydroepiandrosterone sulfate (HMDB0001032) | Blood | 20 uM | Abnormal | Newborn (0-30 days old) | Female | details |
| Dehydroepiandrosterone sulfate (HMDB0001032) | Blood | 2.000-10.400 uM | Abnormal | Children (1-13 years old) | Both | details |
| Tetrahydrodeoxycortisol (HMDB0005972) | Urine | 0.713-1.580 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Female | details |
| Tetrahydrodeoxycortisol (HMDB0005972) | Urine | 0.360-0.960 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| Pregnanetriol (HMDB0006070) | Urine | 0.02 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Female | details |
| Pregnanetriol (HMDB0006070) | Urine | 0.0267-0.0733 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
2,4-dienoyl-CoA reductase deficiency (616034 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| L-Lactic acid (HMDB0000190) | Blood | 1800-7700 uM | Abnormal | Infant (0-1 year old) | Male | details |
| L-Carnitine (HMDB0000062) | Blood | 18-22 uM | Abnormal | Infant (0-1 year old) | Male | details |
| L-Lysine (HMDB0000182) | Blood | 135-831 uM | Abnormal | Infant (0-1 year old) | Male | details |
| 2-trans,4-cis-Decadienoylcarnitine (HMDB0013325) | Blood | 0.125 uM | Abnormal | Newborn (0-30 days old) | Male | details |
| 2-trans,4-cis-Decadienoylcarnitine (HMDB0013325) | Blood | 0.200-1.300 uM | Abnormal | Infant (0-1 year old) | Male | details |
| L-Lactic acid (HMDB0000190) | Cerebrospinal Fluid (CSF) | 4100 uM | Abnormal | Infant (0-1 year old) | Male | details |
| L-Lysine (HMDB0000182) | Cerebrospinal Fluid (CSF) | 226 uM | Abnormal | Infant (0-1 year old) | Male | details |
| L-Lysine (HMDB0000182) | Urine | 1779 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
2-Aminoadipic aciduria (204750 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Oxoadipic acid (HMDB0000225) | Urine | 520-970 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Female | details |
2-Ketoadipic acidemia (245130 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Aminoadipic acid (HMDB0000510) | Blood | 55.0 (30.0-80.0) uM | Abnormal | Children (1-13 years old) | Both | details |
| 2-Hydroxyadipic acid (HMDB0000321) | Urine | 1.0 (0.0-2.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| 2-Hydroxyadipic acid (HMDB0000321) | Urine | 135.0 (50.0-220.0) umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| Oxoadipic acid (HMDB0000225) | Urine | 62 umol/mmol creatinine | Abnormal | Adolescent (13-18 years old) | Male | details |
| Aminoadipic acid (HMDB0000510) | Urine | 148 umol/mmol creatinine | Abnormal | Adolescent (13-18 years old) | Male | details |
| Oxoadipic acid (HMDB0000225) | Urine | 456 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Not Specified | details |
| Oxoadipic acid (HMDB0000225) | Urine | 135 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Not Specified | details |
| 2-Hydroxyadipic acid (HMDB0000321) | Urine | 20 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Not Specified | details |
| 2-Hydroxyadipic acid (HMDB0000321) | Urine | 12.9 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Not Specified | details |
| Aminoadipic acid (HMDB0000510) | Urine | 1243 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Not Specified | details |
| Aminoadipic acid (HMDB0000510) | Urine | 176 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Not Specified | details |
2-Ketoglutarate dehydrogenase complex deficiency (203740 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| L-Lactic acid (HMDB0000190) | Blood | 1430-11520 uM | Abnormal | Infant (0-1 year old) | Male | details |
| Pyruvic acid (HMDB0000243) | Blood | 60-240 uM | Abnormal | Infant (0-1 year old) | Male | details |
| Citric acid (HMDB0000094) | Blood | 71-107 uM | Abnormal | Children (1-13 years old) | Both | details |
| L-Lactic acid (HMDB0000190) | Blood | 1000-3580 uM | Abnormal | Children (1-13 years old) | Both | details |
| Oxoglutaric acid (HMDB0000208) | Blood | 17-37 uM | Abnormal | Children (1-13 years old) | Both | details |
| Pyruvic acid (HMDB0000243) | Blood | 102-230 uM | Abnormal | Children (1-13 years old) | Both | details |
| Acetoacetic acid (HMDB0000060) | Blood | 100 uM | Abnormal | Newborn (0-30 days old) | Male | details |
| Acetoacetic acid (HMDB0000060) | Blood | 50-1280 uM | Abnormal | Children (1-13 years old) | Male | details |
| L-Lactic acid (HMDB0000190) | Blood | 7700 uM | Abnormal | Newborn (0-30 days old) | Male | details |
| L-Lactic acid (HMDB0000190) | Blood | 1400-7800 uM | Abnormal | Children (1-13 years old) | Both | details |
| Pyruvic acid (HMDB0000243) | Blood | 270 uM | Abnormal | Newborn (0-30 days old) | Male | details |
| Pyruvic acid (HMDB0000243) | Blood | 5-440 uM | Abnormal | Children (1-13 years old) | Both | details |
| 3-Hydroxybutyric acid (HMDB0000011) | Blood | 100 uM | Abnormal | Newborn (0-30 days old) | Male | details |
| 3-Hydroxybutyric acid (HMDB0000011) | Blood | 120-2000 uM | Abnormal | Children (1-13 years old) | Male | details |
| Hydrogen carbonate (HMDB0000595) | Blood | 15000 uM | Abnormal | Newborn (0-30 days old) | Male | details |
| Hydrogen carbonate (HMDB0000595) | Blood | 11000-21000 uM | Abnormal | Children (1-13 years old) | Both | details |
| Citric acid (HMDB0000094) | Cerebrospinal Fluid (CSF) | 149.400-152.400 uM | Abnormal | Children (1-13 years old) | Both | details |
| L-Lactic acid (HMDB0000190) | Cerebrospinal Fluid (CSF) | 1930-2500 uM | Abnormal | Children (1-13 years old) | Both | details |
| Oxoglutaric acid (HMDB0000208) | Cerebrospinal Fluid (CSF) | 3.600-12.800 uM | Abnormal | Children (1-13 years old) | Both | details |
| Pyruvic acid (HMDB0000243) | Cerebrospinal Fluid (CSF) | 176.900-191.400 uM | Abnormal | Children (1-13 years old) | Both | details |
| Oxoglutaric acid (HMDB0000208) | Urine | 101.0 (50.0-152.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Oxoglutaric acid (HMDB0000208) | Urine | 875.0 (150.0-1600.0) umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| Fumaric acid (HMDB0000134) | Urine | 17-124 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
| Malic acid (HMDB0000156) | Urine | 7-194 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
| Oxoglutaric acid (HMDB0000208) | Urine | 30-1600 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
| Succinic acid (HMDB0000254) | Urine | 75-185 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (300438 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| D-Glucose (HMDB0000122) | Blood | 2200 uM | Abnormal | Newborn (0-30 days old) | Male | details |
| L-Lactic acid (HMDB0000190) | Blood | 8000 uM | Abnormal | Newborn (0-30 days old) | Male | details |
| L-Lactic acid (HMDB0000190) | Blood | 7600-11000 uM | Abnormal | Infant (0-1 year old) | Male | details |
| L-Lactic acid (HMDB0000190) | Blood | 1700 uM | Abnormal | Children (1-13 years old) | Female | details |
| alpha-D-Glucose (HMDB0003345) | Blood | 2200 uM | Abnormal | Newborn (0-30 days old) | Male | details |
| 2-Methyl-3-hydroxybutyric acid (HMDB0000354) | Urine | 99 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Female | details |
| 2-Methyl-3-hydroxybutyric acid (HMDB0000354) | Urine | 89-226 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
| Tiglylglycine (HMDB0000959) | Urine | 21 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Female | details |
| Tiglylglycine (HMDB0000959) | Urine | 145-440 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
21-Hydroxylase deficiency (201910 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| 21-Deoxycortisol (HMDB0004030) | Blood | 0.00234 (0.00008-0.04071) uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| 17-Hydroxyprogesterone (HMDB0000374) | Blood | 0.0014 (0.000030-0.0028) uM | Abnormal | Adult (>18 years old) | Both | details |
| 17-Hydroxyprogesterone (HMDB0000374) | Blood | 0.016 (0.0090-0.024) uM | Abnormal | Children (1-13 years old) | Both | details |
| 17-Hydroxyprogesterone (HMDB0000374) | Blood | 0.238 (0.0251-0.611) uM | Abnormal | Adult (>18 years old) | Both | details |
| 17-Hydroxyprogesterone (HMDB0000374) | Blood | >0.303 uM | Abnormal | Children (1-13 years old) | Male | details |
| 17-Hydroxyprogesterone (HMDB0000374) | Blood | >0.605 uM | Abnormal | Newborn (0-30 days old) | Male | details |
| D-Glucose (HMDB0000122) | Blood | 5828.285-15264.557 uM | Abnormal | Adult (>18 years old) | Female | details |
| 17-Hydroxyprogesterone (HMDB0000374) | Blood | 484.17 uM | Abnormal | Adolescent (13-18 years old) | Female | details |
| Creatinine (HMDB0000562) | Blood | 203.328 uM | Abnormal | Adult (>18 years old) | Female | details |
| Potassium (HMDB0000586) | Blood | 7800 uM | Abnormal | Adult (>18 years old) | Female | details |
| Sodium (HMDB0000588) | Blood | 128000 uM | Abnormal | Adult (>18 years old) | Female | details |
| Hydrogen carbonate (HMDB0000595) | Blood | 11000 uM | Abnormal | Newborn (0-30 days old) | Female | details |
| Testosterone (HMDB0000234) | Blood | 0.00385 uM | Abnormal | Adult (>18 years old) | Female | details |
| 17-Hydroxyprogesterone (HMDB0000374) | Blood | 6.99 uM | Abnormal | Newborn (0-30 days old) | Female | details |
| Androstenedione (HMDB0000053) | Blood | 0.00663 uM | Abnormal | Adolescent (13-18 years old) | Female | details |
| 17-Hydroxyprogesterone (HMDB0000374) | Blood | 3873.39-12951.64 uM | Abnormal | Adult (>18 years old) | Female | details |
| Potassium (HMDB0000586) | Blood | 7100-9000 uM | Abnormal | Newborn (0-30 days old) | Female | details |
| Sodium (HMDB0000588) | Blood | 105000-129000 uM | Abnormal | Newborn (0-30 days old) | Female | details |
| Androstenedione (HMDB0000053) | Blood | 0-0.00244 uM | Abnormal | Adult (>18 years old) | Female | details |
| Androstenedione (HMDB0000053) | Blood | 0.00154-0.0174 uM | Abnormal | Adult (>18 years old) | Female | details |
| 17-Hydroxyprogesterone (HMDB0000374) | Blood | 0.0388-0.252 uM | Abnormal | Adult (>18 years old) | Female | details |
| Dehydroepiandrosterone (HMDB0000077) | Blood | 0.00250-0.00284 uM | Abnormal | Adult (>18 years old) | Female | details |
| Testosterone (HMDB0000234) | Blood | 0.00198-0.00368 uM | Abnormal | Adult (>18 years old) | Female | details |
| 17-Hydroxyprogesterone (HMDB0000374) | Blood | <0.00300 uM | Abnormal | Newborn (0-30 days old) | Not Specified | details |
| 17-Hydroxyprogesterone (HMDB0000374) | Blood | >0.300 uM | Abnormal | Newborn (0-30 days old) | Not Specified | details |
| alpha-D-Glucose (HMDB0003345) | Blood | 5828.285-15264.557 uM | Abnormal | Adult (>18 years old) | Female | details |
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (246450 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Ammonia (HMDB0000051) | Blood | 13446.464-63415.637 uM | Abnormal | Children (1 - 13 years old) | Both | details |
| Ammonia (HMDB0000051) | Blood | 231(96-780) uM | Abnormal | Adult (>18 years old) | Both | details |
| 3-Hydroxyisovalerylcarnitine (HMDB0061189) | Blood | 5.05 uM | Abnormal | Adult (>18 years old) | Female | details |
| 3-Hydroxyisovalerylcarnitine (HMDB0061189) | Blood | 4.81 +/- 0.47 uM | Abnormal | Children (1 - 13 years old) | Not Specified | details |
| L-Lactic acid (HMDB0000190) | Blood | 10000 uM | Abnormal | Infant (0-1 year old) | Male | details |
| Pyruvic acid (HMDB0000243) | Blood | 500 uM | Abnormal | Infant (0-1 year old) | Male | details |
| D-Glucose (HMDB0000122) | Blood | 900-2200 uM | Abnormal | Infant (0-1 year old) | Both | details |
| Pyruvic acid (HMDB0000243) | Blood | 400-40200 uM | Abnormal | Newborn (0-30 days old) | Both | details |
| Ammonia (HMDB0000051) | Blood | 85-835 uM | Abnormal | Infant (0-1 year old) | Both | details |
| D-Glucose (HMDB0000122) | Blood | 200-2200 uM | Abnormal | Newborn (0-30 days old) | Both | details |
| L-Lactic acid (HMDB0000190) | Blood | 10000-37900 uM | Abnormal | Newborn (0-30 days old) | Both | details |
| Ammonia (HMDB0000051) | Blood | 105-500 uM | Abnormal | Newborn (0-30 days old) | Both | details |
| D-Glucose (HMDB0000122) | Blood | 2300 uM | Abnormal | Infant (0-1 year old) | Female | details |
| 3-Hydroxybutyric acid (HMDB0000011) | Blood | 64 uM | Abnormal | Infant (0-1 year old) | Female | details |
| 3-Hydroxyisovalerylcarnitine (HMDB0061189) | Blood | 5.05 uM | Abnormal | Adult (>18 years old) | Female | details |
| L-Carnitine (HMDB0000062) | Blood | 17 uM | Abnormal | Adult (>18 years old) | Male | details |
| D-Glucose (HMDB0000122) | Blood | 166.522 uM | Abnormal | Newborn (0-30 days old) | Male | details |
| Hydrogen carbonate (HMDB0000595) | Blood | 16900 uM | Abnormal | Newborn (0-30 days old) | Male | details |
| L-Lactic acid (HMDB0000190) | Blood | 3140 uM | Abnormal | Newborn (0-30 days old) | Male | details |
| Cortisol (HMDB0000063) | Blood | 0.353 uM | Abnormal | Newborn (0-30 days old) | Male | details |
| Ammonia (HMDB0000051) | Blood | 63 uM | Abnormal | Newborn (0-30 days old) | Male | details |
| 3-Methylglutarylcarnitine (HMDB0000552) | Blood | 0.76 uM | Abnormal | Newborn (0-30 days old) | Male | details |
| 3-Hydroxyisovalerylcarnitine (HMDB0061189) | Blood | 7.78 uM | Abnormal | Newborn (0-30 days old) | Male | details |
| L-Carnitine (HMDB0000062) | Blood | 20.540 +/- 1.850 uM | Abnormal | Children (1-13 years old) | Not Specified | details |
| alpha-D-Glucose (HMDB0003345) | Blood | 900-2200 uM | Abnormal | Infant (0-1 year old) | Both | details |
| alpha-D-Glucose (HMDB0003345) | Blood | 200-2200 uM | Abnormal | Newborn (0-30 days old) | Both | details |
| alpha-D-Glucose (HMDB0003345) | Blood | 2300 uM | Abnormal | Infant (0-1 year old) | Female | details |
| alpha-D-Glucose (HMDB0003345) | Blood | 166.522 uM | Abnormal | Newborn (0-30 days old) | Male | details |
| 3-Hydroxyisovaleric acid (HMDB0000754) | Urine | 23.0 (0.0-46.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| 3-Hydroxyisovaleric acid (HMDB0000754) | Urine | 2030.0 (60.0-4000.0) umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| 3-Methylcrotonylglycine (HMDB0000459) | Urine | 225.0 (0.00-450.0) umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| 3-Methylglutaconic acid (HMDB0000522) | Urine | 4.5 (0.00-9.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| 3-Methylglutaconic acid (HMDB0000522) | Urine | 5070.0 (140.0-10000.0) umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| Methylglutaric acid (HMDB0000752) | Urine | 3.5 (0.0-7.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Methylglutaric acid (HMDB0000752) | Urine | 507.0 (14.0-1000.0) umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| Adipic acid (HMDB0000448) | Urine | 17.15 (0.00-34.30) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Adipic acid (HMDB0000448) | Urine | 31.0 (12.0-50.0) umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| Senecioic acid (HMDB0000509) | Urine | Not Quantified | Abnormal | Not Specified | Not Specified | details |
| 3-Methylbut-3-enoic acid (HMDB0170858) | Urine | Not Quantified | Abnormal | Not Specified | Not Specified | details |
| 3-Hydroxymethylglutaric acid (HMDB0000355) | Urine | 481 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Female | details |
| 3-Hydroxymethylglutaric acid (HMDB0000355) | Urine | 1028.4 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Male | details |
| 3-Methylcrotonylglycine (HMDB0000459) | Urine | 27.6 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Male | details |
| 3-Methylglutaconic acid (HMDB0000522) | Urine | 3714 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Female | details |
| Glutaric acid (HMDB0000661) | Urine | 1274.9 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Male | details |
| Methylglutaric acid (HMDB0000752) | Urine | 348 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Male | details |
| Methylglutaric acid (HMDB0000752) | Urine | 622 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Female | details |
| 3-Hydroxyisovaleric acid (HMDB0000754) | Urine | 851 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Female | details |
| 3-Hydroxyisovaleric acid (HMDB0000754) | Urine | 1154.8 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Male | details |
| 3-Hydroxymethylglutaric acid (HMDB0000355) | Urine | 481 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Female | details |
| 3-Methylglutaconic acid (HMDB0000522) | Urine | 3714 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Female | details |
| Methylglutaric acid (HMDB0000752) | Urine | 622 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Female | details |
| 3-Hydroxyisovaleric acid (HMDB0000754) | Urine | 851 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Female | details |
| 3-Hydroxymethylglutaric acid (HMDB0000355) | Urine | 1028.4 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Male | details |
| 3-Methylcrotonylglycine (HMDB0000459) | Urine | 27.6 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Male | details |
| 3-Methylglutaconic acid (HMDB0000522) | Urine | 4166.4 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Male | details |
| Glutaric acid (HMDB0000661) | Urine | 1274.9 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Male | details |
| Methylglutaric acid (HMDB0000752) | Urine | 348 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Male | details |
| 3-Hydroxyisovaleric acid (HMDB0000754) | Urine | 1154.8 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Male | details |
3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency (605911 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| 3-Hydroxycapric acid (HMDB0002203) | Blood | ND-25 uM | Abnormal | Children (1-13 years old) | Male | details |
| D-Glucose (HMDB0000122) | Blood | 2800 uM | Abnormal | Children (1-13 years old) | Male | details |
| 3-Hydroxyoctanoic acid (HMDB0001954) | Blood | 3-2400 uM | Abnormal | Children (1-13 years old) | Male | details |
| 3-Hydroxyhexanoic acid (HMDB0061652) | Blood | 6-510 uM | Abnormal | Children (1-13 years old) | Male | details |
| Acetoacetic acid (HMDB0000060) | Blood | <30 uM | Abnormal | Children (1-13 years old) | Male | details |
| L-Lactic acid (HMDB0000190) | Blood | 1260 uM | Abnormal | Children (1-13 years old) | Male | details |
| Pyruvic acid (HMDB0000243) | Blood | 60 uM | Abnormal | Children (1-13 years old) | Male | details |
| 3-Hydroxybutyric acid (HMDB0000011) | Blood | 20-50 uM | Abnormal | Children (1-13 years old) | Male | details |
| Cortisol (HMDB0000063) | Blood | 1.036 uM | Abnormal | Children (1-13 years old) | Male | details |
| L-Carnitine (HMDB0000062) | Blood | 22000-50000 uM | Abnormal | Not Specified | Not Specified | details |
| D-Glucose (HMDB0000122) | Blood | 1000-4100 uM | Abnormal | Children (1-13 years old) | Male | details |
| Cholesterol (HMDB0000067) | Blood | 4060 uM | Abnormal | Infant (0-1 year old) | Male | details |
| D-Glucose (HMDB0000122) | Blood | 3890 uM | Abnormal | Infant (0-1 year old) | Male | details |
| L-Lactic acid (HMDB0000190) | Blood | 790 uM | Abnormal | Infant (0-1 year old) | Male | details |
| Ethylmalonic acid (HMDB0000622) | Urine | 38 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Male | details |
| Adipic acid (HMDB0000448) | Urine | 539 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
| Glutaric acid (HMDB0000661) | Urine | 557 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
| Sebacic acid (HMDB0000792) | Urine | 1 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
| Suberic acid (HMDB0000893) | Urine | 24 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
3-Hydroxyacyl-CoA dehydrogenase deficiency (231530 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Ammonia (HMDB0000051) | Blood | 75-92 uM | Abnormal | Adolescent (13-18 years old) | Female | details |
| D-Glucose (HMDB0000122) | Blood | 2997.404 uM | Abnormal | Adolescent (13-18 years old) | Female | details |
| D-Glucose (HMDB0000122) | Blood | 3108.419 uM | Abnormal | Adult (>18 years old) | Male | details |
| 3-Hydroxybutyric acid (HMDB0000011) | Blood | 500 uM | Abnormal | Adult (>18 years old) | Male | details |
| 3-Hydroxybutyric acid (HMDB0000011) | Blood | 660 uM | Abnormal | Adolescent (13-18 years old) | Female | details |
| D-Glucose (HMDB0000122) | Blood | 2053.777-2220.299 uM | Abnormal | Children (1-13 years old) | Both | details |
| D-Glucose (HMDB0000122) | Blood | 2164.792-2553.344 uM | Abnormal | Infant (0-1 year old) | Female | details |
| 3-Hydroxybutyric acid (HMDB0000011) | Blood | 200-2800 uM | Abnormal | Infant (0-1 year old) | Female | details |
| 3-Hydroxybutyric acid (HMDB0000011) | Blood | 770-2900 uM | Abnormal | Children (1-13 years old) | Both | details |
| Ammonia (HMDB0000051) | Blood | 61-164 uM | Abnormal | Adult (>18 years old) | Both | details |
| Ammonia (HMDB0000051) | Blood | 40-145 uM | Abnormal | Children (1-13 years old) | Both | details |
| D-Glucose (HMDB0000122) | Blood | 1300-1400 uM | Abnormal | Infant (0-1 year old) | Female | details |
| Cortisol (HMDB0000063) | Blood | 0.381 uM | Abnormal | Infant (0-1 year old) | Female | details |
| L-Carnitine (HMDB0000062) | Blood | 47-68 uM | Abnormal | Infant (0-1 year old) | Female | details |
| 3-Hydroxybutyrylcarnitine (HMDB0013127) | Blood | 1.780 (0.920-3.0400) uM | Abnormal | Infant (0-1 year old) | Female | details |
| L-Acetylcarnitine (HMDB0000201) | Blood | 27.740 +/- 9.800 uM | Abnormal | Infant (0-1 year old) | Female | details |
| 3-Hydroxybutyric acid (HMDB0000011) | Blood | 10-1380 uM | Abnormal | Infant (0-1 year old) | Female | details |
| D-Glucose (HMDB0000122) | Blood | 800-1600 uM | Abnormal | Newborn (0-30 days old) | Both | details |
| L-Carnitine (HMDB0000062) | Blood | 43-51 uM | Abnormal | Infant (0-1 year old) | Male | details |
| 3-Hydroxybutyric acid (HMDB0000011) | Blood | 0-200 uM | Abnormal | Infant (0-1 year old) | Male | details |
| D-Glucose (HMDB0000122) | Blood | 2100-2700 uM | Abnormal | Infant (0-1 year old) | Male | details |
| L-Lactic acid (HMDB0000190) | Blood | 1500-2000 uM | Abnormal | Infant (0-1 year old) | Male | details |
| Ammonia (HMDB0000051) | Blood | 44-84 uM | Abnormal | Infant (0-1 year old) | Male | details |
| 3-Hydroxybutyrylcarnitine (HMDB0013127) | Blood | 0.940-1.720 uM | Abnormal | Infant (0-1 year old) | Male | details |
| 2-Hydroxyglutarate (HMDB0059655) | Urine | 113 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Male | details |