Human Metabolome Database Version 3.5
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Browsing diseases
11-beta-hydroxylase deficiency
(202010 
)
| Metabolite | Biofluid | Concentration | Patient Status | Age | Sex | Reference |
|---|---|---|---|---|---|---|
| 21-Deoxycortisol (HMDB04030) | Blood | 0.00110 (0.00081 - 0.00196) uM | Abnormal | Adult (>18 years old) | Both |
16551734
|
| Vaccenic acid (HMDB03231) | Blood | 6.390 +/- 4.279 uM | Normal | Adult (>18 years old) | Both |
21359215
|
| CE(22:5(7Z,10Z,13Z,16Z,19Z)) (HMDB10375) | Blood | 3.23 +/- 3.67 uM | Normal | Adult (>18 years old) | Both |
21359215
|
| Fructosamine (HMDB02030) | Blood | 192 (149–242) uM | Normal | Adult (>18 years old) | Both |
17919531
|
2-Aminoadipic aciduria
(204750 )
| Metabolite | Biofluid | Concentration | Patient Status | Age | Sex | Reference |
|---|---|---|---|---|---|---|
| Aminoadipic acid (HMDB00510) | Blood | 48.0 uM | Abnormal | Adult (>18 years old) | Both |
|
| Aminoadipic acid (HMDB00510) | Urine | 13.00 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both |
|
2-hydroxyglutaric aciduria
(236792 )
| Metabolite | Biofluid | Concentration | Patient Status | Age | Sex | Reference |
|---|---|---|---|---|---|---|
| L-2-Hydroxyglutaric acid (HMDB00694) | Blood | 0.75 (0.0-1.5) uM | Abnormal | Adult (>18 years old) | Both |
|
| L-2-Hydroxyglutaric acid (HMDB00694) | Blood | 33.3 (7.0-61.0) uM | Abnormal | Adult (>18 years old) | Both |
|
| L-2-Hydroxyglutaric acid (HMDB00694) | Urine | 50.00-4300.00 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both |
|
2-ketoadipic acidemia
(245130 )
| Metabolite | Biofluid | Concentration | Patient Status | Age | Sex | Reference |
|---|---|---|---|---|---|---|
| Aminoadipic acid (HMDB00510) | Blood | 55.0 (30.0-80.0) uM | Abnormal | Adult (>18 years old) | Both |
|
| Aminoadipic acid (HMDB00510) | Urine | 54.2 (9.8-98.6) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both |
|
| 2-Hydroxyadipic acid (HMDB00321) | Urine | 1.0 (0.0-2.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both |
|
| 2-Hydroxyadipic acid (HMDB00321) | Urine | 135.0 (50.0-220.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both |
|
| Oxoadipic acid (HMDB00225) | Urine | 1.0 (0.0-2.0) umol/mmol creatinine | Normal | Adult (>18 years old) | Both |
|
| Oxoadipic acid (HMDB00225) | Urine | 120.0 (20.0-220.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both |
|
2-Ketoglutarate dehydrogenase complex deficiency
(203740 )
| Metabolite | Biofluid | Concentration | Patient Status | Age | Sex | Reference |
|---|---|---|---|---|---|---|
| Oxoglutaric acid (HMDB00208) | Urine | 101.0 (50.0-152.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both |
|
| Oxoglutaric acid (HMDB00208) | Urine | 875.0 (150.0-1600.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both |
|
21-hydroxylase deficiency
(201910 )
| Metabolite | Biofluid | Concentration | Patient Status | Age | Sex | Reference |
|---|---|---|---|---|---|---|
| 21-Deoxycortisol (HMDB04030) | Blood | 0.00234 (0.00008-0.04071) uM | Abnormal | Adult (>18 years old) | Not Specified |
16551734
|
| 17-Hydroxyprogesterone (HMDB00374) | Blood | 0.0014 (0.000030-0.0028) uM | Abnormal | Adult (>18 years old) | Both |
|
| 17-Hydroxyprogesterone (HMDB00374) | Blood | 0.016 (0.0090-0.024) uM | Abnormal | Adult (>18 years old) | Both |
|
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
(246450 )
| Metabolite | Biofluid | Concentration | Patient Status | Age | Sex | Reference |
|---|---|---|---|---|---|---|
| Ammonia (HMDB00051) | Blood | 1030.0 (60.0-2000.0) uM | Abnormal | Adult (>18 years old) | Both |
|
| 3-Hydroxymethylglutaric acid (HMDB00355) | Urine | 5600.0 (200.0-11000.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both |
|
| 3-Hydroxyisovaleric acid (HMDB00754) | Urine | 2030.0 (60.0-4000.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both |
|
| 3-Methylcrotonylglycine (HMDB00459) | Urine | 225.0 (0.00-450.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both |
|
| 3-Methylglutaconic acid (HMDB00522) | Urine | 5070.0 (140.0-10000.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both |
|
| Methylglutaric acid (HMDB00752) | Urine | 507.0 (14.0-1000.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both |
|
| Adipic acid (HMDB00448) | Urine | 31.0 (12.0-50.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both |
|
| 3-Hydroxyisovaleric acid (HMDB00754) | Urine | 23.0 (0.0-46.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both |
|
| Methylglutaric acid (HMDB00752) | Urine | 3.5 (0.00-7.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both |
|
| 3-Methylglutaconic acid (HMDB00522) | Urine | 4.5 (0.00-9.0) umol/mmol creatinine | Normal | Adult (>18 years old) | Both |
|
| Adipic acid (HMDB00448) | Urine | 17.15 (0.00-34.30) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both |
|
| Ammonia (HMDB00051) | Blood | 52.5 (25.0-80.0) uM | Abnormal | Adult (>18 years old) | Both |
|
3-Hydroxyisobutyric aciduria
(236795 )
| Metabolite | Biofluid | Concentration | Patient Status | Age | Sex | Reference |
|---|---|---|---|---|---|---|
| (S)-3-Hydroxyisobutyric acid (HMDB00023) | Urine | 17.5 (2.0-33.0) umol/mmol creatinine | Normal | Adult (>18 years old) | Both |
|
| (S)-3-Hydroxyisobutyric acid (HMDB00023) | Urine | 225.0 (60.0-390.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both |
|
3-methyl-crotonyl-glycinuria
(210200 )
| Metabolite | Biofluid | Concentration | Patient Status | Age | Sex | Reference |
|---|---|---|---|---|---|---|
| D-Glucose (HMDB00122) | Blood | 1750.0 (500.0-3000.0) uM | Abnormal | Adult (>18 years old) | Both |
|
| 3-Hydroxyisovaleric acid (HMDB00754) | Urine | 23.0 (0.00-46.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both |
|
| 3-Hydroxyisovaleric acid (HMDB00754) | Urine | 30350.0 (1700-59000.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both |
|
| 3-Methylcrotonylglycine (HMDB00459) | Urine | 1.0 (0.0-2.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both |
|
| D-Glucose (HMDB00122) | Blood | 4400.0 (3300.0-5500.0) uM | Abnormal | Adult (>18 years old) | Both |
|
| Ammonia (HMDB00051) | Blood | 52.5 (25.0-80.0) uM | Abnormal | Adult (>18 years old) | Both |
|
| Ammonia (HMDB00051) | Blood | 200.0 (100.0-300.0) uM | Abnormal | Adult (>18 years old) | Both |
|
3-Methylglutaconic aciduria
(250950 )
| Metabolite | Biofluid | Concentration | Patient Status | Age | Sex | Reference |
|---|---|---|---|---|---|---|
| 3-Hydroxyisovaleric acid (HMDB00754) | Blood | 10.0 (10.0 - 20.0) uM | Abnormal | Adult (>18 years old) | Both |
16541463
|
3-Methylglutaconic aciduria type I
(250950 )
| Metabolite | Biofluid | Concentration | Patient Status | Age | Sex | Reference |
|---|---|---|---|---|---|---|
| 3-Hydroxyisovaleric acid (HMDB00754) | Urine | 200.0 (150.0-250.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both |
|
| Methylglutaric acid (HMDB00752) | Urine | 7.5 (5.0-10.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both |
|
| 3-Methylglutaconic acid (HMDB00522) | Urine | 750.0 (500.0-1000.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both |
|
3-methylglutaconic aciduria type II, X-linked
(302060 )
| Metabolite | Biofluid | Concentration | Patient Status | Age | Sex | Reference |
|---|---|---|---|---|---|---|
| Pyruvic acid (HMDB00243) | Blood | 93.5 (27.0-160.0) uM | Normal | Adult (>18 years old) | Both |
|
5-oxoprolinase deficiency
(260005 )
| Metabolite | Biofluid | Concentration | Patient Status | Age | Sex | Reference |
|---|---|---|---|---|---|---|
| Pyroglutamic acid (HMDB00267) | Urine | 28.8 (3.4-54.2) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both |
|
| Pyroglutamic acid (HMDB00267) | Urine | 3500.0 (1000.0-6000.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both |
|
Abetalipoproteinemia
(200100 )
| Metabolite | Biofluid | Concentration | Patient Status | Age | Sex | Reference |
|---|---|---|---|---|---|---|
| Glucosylceramide (HMDB00140) | Blood | 4.0 (3.9-4.4) uM | Abnormal | Adult (>18 years old) | Both |
178813
|
| Lactosylceramide (d18:1/12:0) (HMDB04866) | Blood | 3.0 (2.9-3.3) uM | Abnormal | Adult (>18 years old) | Both |
178813
|
| Trihexosylceramide (d18:1/12:0) (HMDB04877) | Blood | 1.0 (0.6-1.7) uM | Abnormal | Adult (>18 years old) | Both |
178813
|
| Trihexosylceramide (d18:1/18:0) (HMDB04880) | Blood | 1.0 (0.6-1.7) uM | Abnormal | Adult (>18 years old) | Both |
178813
|
| Trihexosylceramide (d18:1/22:0) (HMDB04882) | Blood | 1.0 (0.6-1.7) uM | Abnormal | Adult (>18 years old) | Both |
178813
|
| Trihexosylceramide (d18:1/24:0) (HMDB04886) | Blood | 1.0 (0.6-1.7) uM | Abnormal | Adult (>18 years old) | Both |
178813
|
| Trihexosylceramide (d18:1/26:1(17Z)) (HMDB04884) | Blood | 1.0 (0.6-1.7) uM | Abnormal | Adult (>18 years old) | Both |
178813
|
| Tetrahexosylceramide (d18:1/12:0) (HMDB04958) | Blood | 1.5 (1.0-2.2) uM | Abnormal | Adult (>18 years old) | Both |
178813
|
| Ganglioside GM3 (d18:1/16:0) (HMDB04844) | Blood | 4.0 (3.0-5.2) uM | Abnormal | Adult (>18 years old) | Both |
178813
|
Abnormal
| Metabolite | Biofluid | Concentration | Patient Status | Age | Sex | Reference |
|---|---|---|---|---|---|---|
| L-Valine (HMDB00883) | Cerebrospinal Fluid (CSF) | 98.61 uM(N=1) (Cachexia) Not Specified | Abnormal | Adult (>18 years old) | Not Specified |
18953024
|
| Hexanal (HMDB05994) | Cerebrospinal Fluid (CSF) | 24.5 uM | Abnormal | Adult (>18 years old) | Both |
7320160
|
| 5-Acetylamino-6-amino-3-methyluracil (HMDB04400) | Urine | 5.06 +/- 0.13 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both |
11393735
|
| Ethanol (HMDB00108) | Urine | 5-500 umol/mmol creatinine | Normal | Adult (>18 years old) | Both |
15281911
|
ACTH deficiency, isolated
(201400 )
| Metabolite | Biofluid | Concentration | Patient Status | Age | Sex | Reference |
|---|---|---|---|---|---|---|
| Cortisol (HMDB00063) | Blood | 0.001 (0.00-0.002) uM | Abnormal | Adult (>18 years old) | Both |
|
| Cortisol (HMDB00063) | Blood | 0.34 (0.028-0.66) uM | Abnormal | Adult (>18 years old) | Both |
|
Acute liver disease
| Metabolite | Biofluid | Concentration | Patient Status | Age | Sex | Reference |
|---|---|---|---|---|---|---|
| Enkephalin L (HMDB01045) | Blood | 0.0014 (0.0008-0.0024) uM | Abnormal | Adult (>18 years old) | Both |
2583565
|
Acute liver failure
| Metabolite | Biofluid | Concentration | Patient Status | Age | Sex | Reference |
|---|---|---|---|---|---|---|
| Glycocholic acid (HMDB00138) | Blood | 1.5 +/- 1.2 uM | Abnormal | Children (1-13 year old) | Not Specified |
7119120
|
Acute myelogenous leukemia
(602439 )
| Metabolite | Biofluid | Concentration | Patient Status | Age | Sex | Reference |
|---|---|---|---|---|---|---|
| Cholesterol (HMDB00067) | Blood | 3200.0 (2600.0-4100.0) uM | Abnormal | Adult (>18 years old) | Both |
11463495
|
| D-Glucose (HMDB00122) | Blood | 6000.0 (5000.0 - 6800.0) uM | Abnormal | Adult (>18 years old) | Both |
11463495
|
Acute seizures
| Metabolite | Biofluid | Concentration | Patient Status | Age | Sex | Reference |
|---|---|---|---|---|---|---|
| L-Cystine (HMDB00192) | Blood | 30.1 (24.5-35.7) uM | Abnormal | Adult (>18 years old) | Both |
14992292
|
Addison's Disease
(240200 )
| Metabolite | Biofluid | Concentration | Patient Status | Age | Sex | Reference |
|---|---|---|---|---|---|---|
| Epinephrine (HMDB00068) | Blood | 0.00014 +/- 0.000036 uM | Abnormal | Adult (>18 years old) | Male |
7704967
|
| Epinephrine (HMDB00068) | Blood | 0.000077 +/- 0.000025 uM | Abnormal | Adult (>18 years old) | Female |
7704967
|
| D-Glucose (HMDB00122) | Blood | 1750.00 (500.00-3000.00) uM | Abnormal | Adult (>18 years old) | Both |
|
Adenosine deaminase deficiency
(102700 )
| Metabolite | Biofluid | Concentration | Patient Status | Age | Sex | Reference |
|---|---|---|---|---|---|---|
| Deoxyadenosine (HMDB00101) | Urine | 0.005 (0.000-0.010) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both |
9869364
|
| 1-Methyladenine (HMDB11599) | Urine | 3.15 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Female |
2597438
|
| Deoxyadenosine (HMDB00101) | Urine | 176.0 (167.0-185.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both |
10102915
|
Adenylosuccinate lyase deficiency
(103050 )
| Metabolite | Biofluid | Concentration | Patient Status | Age | Sex | Reference |
|---|---|---|---|---|---|---|
| Uric acid (HMDB00289) | Cerebrospinal Fluid (CSF) | 22.0 uM | Abnormal | Adult (>18 years old) | Both |
15571235
|
| SAICAR (HMDB00797) | Cerebrospinal Fluid (CSF) | 921.0 (0.0-1842.0) uM | Abnormal | Adult (>18 years old) | Not Specified |
15571235
|
| Succinyladenosine (HMDB00912) | Cerebrospinal Fluid (CSF) | 477.0 uM | Abnormal | Adult (>18 years old) | Not Specified |
15571235
|
| SAICAR (HMDB00797) | Urine | 214 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both |
10102915
|
| Succinyladenosine (HMDB00912) | Urine | 101-188 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both |
10102915
|
Adrenal hypoplasia
(300200 )
| Metabolite | Biofluid | Concentration | Patient Status | Age | Sex | Reference |
|---|---|---|---|---|---|---|
| Cortisol (HMDB00063) | Blood | 0.001 (0.0-0.002) uM | Abnormal | Adult (>18 years old) | Both |
|
Adrenoleukodystrophy
(300100 )
| Metabolite | Biofluid | Concentration | Patient Status | Age | Sex | Reference |
|---|---|---|---|---|---|---|
| Hexacosanoic acid (HMDB02356) | Blood | 8.8 (2.5-15.0) uM | Abnormal | Adult (>18 years old) | Both |
|
| Phytanic acid (HMDB00801) | Blood | 72.0 (64.0-80.0) uM | Abnormal | Adult (>18 years old) | Both |
|
| Pristanic acid (HMDB00795) | Blood | 21.0 uM | Abnormal | Adult (>18 years old) | Both |
|
| L-Pipecolic acid (HMDB00716) | Blood | 65.0 +/- 63.0 uM | Abnormal | Newborn (0-30 days old) | Both |
2921319
|
| Trihydroxycoprostanoic acid (HMDB02163) | Blood | 10.9 +/- 14.6 uM | Abnormal | Newborn (0-30 days old) | Both |
2921319
|
| Pipecolic acid (HMDB00070) | Urine | 3.3 (1.5-5.0) umol/mmol creatinine | Normal | Adult (>18 years old) | Both |
|
| Pipecolic acid (HMDB00070) | Urine | 49.4 (8.4-90.4) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both |
|
