Browsing Diseases
Abetalipoproteinemia (200100 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Glucosylceramide (HMDB0000140) | Blood | 4.0 (3.9-4.4) uM | Abnormal | Adult (>18 years old) | Both | details |
| LacCer(d18:1/12:0) (HMDB0004866) | Blood | 3.0 (2.9-3.3) uM | Abnormal | Adult (>18 years old) | Both | details |
| Trihexosylceramide (d18:1/12:0) (HMDB0004877) | Blood | 1.0 (0.6-1.7) uM | Abnormal | Adult (>18 years old) | Both | details |
| Trihexosylceramide(d18:1/18:0) (HMDB0004880) | Blood | 1.0 (0.6-1.7) uM | Abnormal | Adult (>18 years old) | Both | details |
| Trihexosylceramide(d18:1/22:0) (HMDB0004882) | Blood | 1.0 (0.6-1.7) uM | Abnormal | Adult (>18 years old) | Both | details |
| Trihexosylceramide (d18:1/24:0) (HMDB0004886) | Blood | 1.0 (0.6-1.7) uM | Abnormal | Adult (>18 years old) | Both | details |
| Trihexosylceramide (d18:1/26:1(17Z)) (HMDB0004884) | Blood | 1.0 (0.6-1.7) uM | Abnormal | Adult (>18 years old) | Both | details |
| Tetrahexosylceramide (d18:1/12:0) (HMDB0004958) | Blood | 1.5 (1.0-2.2) uM | Abnormal | Adult (>18 years old) | Both | details |
| Ganglioside GM3 (d18:1/16:0) (HMDB0004844) | Blood | 4.0 (3.0-5.2) uM | Abnormal | Adult (>18 years old) | Both | details |
| Cholesterol (HMDB0000067) | Blood | 2190 uM | Abnormal | Adult (>18 years old) | Male | details |
| alpha-Tocopherol (HMDB0001893) | Blood | 0.00302 uM | Abnormal | Adult (>18 years old) | Male | details |
| Vitamin A (HMDB0000305) | Blood | 0.45 uM | Abnormal | Adult (>18 years old) | Male | details |
Aceruloplasminemia (604290 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Copper (HMDB0000657) | Blood | 6.295-7.868 uM | Abnormal | Adult (>18 years old) | Female | details |
| Iron (HMDB0015531) | Blood | 5.551-6.625 uM | Abnormal | Adult (>18 years old) | Female | details |
Acrodermatitis enteropathica (201100 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Zinc (HMDB0015532) | Blood | 3.516 uM | Abnormal | Children (1-13 years old) | Male | details |
| Zinc (HMDB0015532) | Urine | 11.619 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Male | details |
ACTH deficiency, isolated (201400 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Cortisol (HMDB0000063) | Blood | 0.34 (0.028-0.66) uM | Abnormal | Adult (>18 years old) | Both | details |
| Cortisol (HMDB0000063) | Blood | <0.1 uM | Abnormal | Adult (>18 years old) | Female | details |
| Cortisol (HMDB0000063) | Blood | 0.22 uM | Abnormal | Children (1-13 years old) | Male | details |
Acute Infantile Liver Failure (613070 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Lactic acid (HMDB0000190) | Blood | 3200-30000 uM | Abnormal | Infant (0-1 year old) | Not Specified | details |
| Lactic acid (HMDB0000190) | Blood | 7000-20000 uM | Abnormal | Newborn (0-30 days old) | Not Specified | details |
Acute intermittent porphyria (176000 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Heptacarboxylporphyrin I (HMDB0000737) | Urine | 0.002 +/- 0.00039 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Coproporphyrin I (HMDB0000643) | Urine | 0.0035 +/- 0.00013 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Coproporphyrin III (HMDB0000570) | Urine | 0.043 +/- 0.00019 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Porphobilinogen (HMDB0000245) | Urine | 57.1 (19.6-132.7) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| 5-Aminolevulinic acid (HMDB0001149) | Urine | 11.0 (95.8-28.7) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Porphobilinogen (HMDB0000245) | Urine | 17.2 (74.9-41.6) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| 5-Aminolevulinic acid (HMDB0001149) | Urine | 6.6 (34.8-15.4) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Porphobilinogen (HMDB0000245) | Urine | 9.7 (21.8-10.5) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| 5-Aminolevulinic acid (HMDB0001149) | Urine | 4.2 (9.9-6.7) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Porphobilinogen (HMDB0000245) | Urine | 2.3 (5.1-2.9) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| 5-Aminolevulinic acid (HMDB0001149) | Urine | 1.5 (3.8-2.6) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
Acute liver disease
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Enkephalin L (HMDB0001045) | Blood | 0.0014 (0.0008-0.0024) uM | Abnormal | Adult (>18 years old) | Both | details |
Acute liver failure
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Glycocholic acid (HMDB0000138) | Blood | 1.5 +/- 1.2 uM | Abnormal | Children (1-13 years old) | Not Specified | details |
Acute Lymphoblastic Leukemia
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Biotin (HMDB0000030) | Cerebrospinal Fluid (CSF) | 0.08198 (0.00033-0.421) uM | Abnormal | Not Specified | Not Specified | details |
| Thromboxane A2 (HMDB0001452) | Cerebrospinal Fluid (CSF) | 0.0029 (0.00021-0.0136) uM | Abnormal | Not Specified | Not Specified | details |
Acute myelogenous leukemia (602439 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Cholesterol (HMDB0000067) | Blood | 3200.0 (2600.0-4100.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| D-Glucose (HMDB0000122) | Blood | 6000.0 (5000.0 - 6800.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| alpha-D-Glucose (HMDB0003345) | Blood | 6000.0 (5000.0 - 6800.0) uM | Abnormal | Adult (>18 years old) | Both | details |
Acute promyelocytic leukemia
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Arsenite (HMDB0011620) | Cerebrospinal Fluid (CSF) | 0.095 (0.0035-0.31) uM | Abnormal | Adult (>18 years old) | Both | details |
Acute seizures
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| L-Cystine (HMDB0000192) | Blood | 30.1 (24.5-35.7) uM | Abnormal | Adult (>18 years old) | Both | details |
Addison's Disease (240200 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Epinephrine (HMDB0000068) | Blood | 0.00014 +/- 0.000036 uM | Abnormal | Adult (>18 years old) | Male | details |
| Epinephrine (HMDB0000068) | Blood | 0.000077 +/- 0.000025 uM | Abnormal | Adult (>18 years old) | Female | details |
| D-Glucose (HMDB0000122) | Blood | 1750.00 (500.00-3000.00) uM | Abnormal | Children (1-13 years old) | Both | details |
| alpha-D-Glucose (HMDB0003345) | Blood | 1750.00 (500.00-3000.00) uM | Abnormal | Children (1-13 years old) | Both | details |
Adenosine deaminase deficiency (102700 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Deoxyadenosine (HMDB0000101) | Urine | 0.005 (0.000-0.010) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Deoxyadenosine (HMDB0000101) | Urine | 176.0 (167.0-185.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| 1-Methyladenine (HMDB0011599) | Urine | 3.15 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Female | details |
| Deoxyadenosine (HMDB0000101) | Urine | 10-190 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Not Specified | details |
| Deoxyadenosine triphosphate (HMDB0001532) | Urine | 0-210000 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Not Specified | details |
Adenosine kinase deficiency (614300 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| S-Adenosylhomocysteine (HMDB0000939) | Blood | 0.102 uM | Abnormal | Adolescent (13-18 years old) | Female | details |
| Methionine (HMDB0000696) | Blood | 886 uM | Abnormal | Adolescent (13-18 years old) | Female | details |
| S-Adenosylhomocysteine (HMDB0000939) | Blood | 0.122 uM | Abnormal | Adult (>18 years old) | Male | details |
| Methionine (HMDB0000696) | Blood | 800 uM | Abnormal | Adult (>18 years old) | Male | details |
| Methionine (HMDB0000696) | Blood | 550 uM | Abnormal | Children (1-13 years old) | Male | details |
| S-Adenosylmethionine (HMDB0001185) | Blood | 0.496 uM | Abnormal | Adolescent (13-18 years old) | Female | details |
| S-Adenosylmethionine (HMDB0001185) | Blood | 0.677 uM | Abnormal | Adult (>18 years old) | Male | details |
| Methionine (HMDB0000696) | Blood | 455 uM | Abnormal | Adult (>18 years old) | Male | details |
| Methionine (HMDB0000696) | Cerebrospinal Fluid (CSF) | 44 uM | Abnormal | Adult (>18 years old) | Male | details |
| S-Adenosylhomocysteine (HMDB0000939) | Cerebrospinal Fluid (CSF) | 0.068 uM | Abnormal | Adolescent (13-18 years old) | Female | details |
| Methionine (HMDB0000696) | Cerebrospinal Fluid (CSF) | 41 uM | Abnormal | Adolescent (13-18 years old) | Female | details |
| S-Adenosylmethionine (HMDB0001185) | Cerebrospinal Fluid (CSF) | 0.291 uM | Abnormal | Adolescent (13-18 years old) | Female | details |
| S-Adenosylmethionine (HMDB0001185) | Cerebrospinal Fluid (CSF) | 0.264 uM | Abnormal | Adult (>18 years old) | Male | details |
| S-Adenosylhomocysteine (HMDB0000939) | Cerebrospinal Fluid (CSF) | 0.102 uM | Abnormal | Adult (>18 years old) | Male | details |
| Adenosine (HMDB0000050) | Urine | 7.1 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Male | details |
| Adenosine (HMDB0000050) | Urine | 9.9 umol/mmol creatinine | Abnormal | Adolescent (13-18 years old) | Female | details |
| Xanthine (HMDB0000292) | Urine | 4.9 umol/mmol creatinine | Abnormal | Adolescent (13-18 years old) | Female | details |
| Xanthine (HMDB0000292) | Urine | 6.8 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Male | details |
Adenylosuccinate lyase deficiency (103050 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Uric acid (HMDB0000289) | Cerebrospinal Fluid (CSF) | 22.0 uM | Abnormal | Adult (>18 years old) | Both | details |
| SAICAR (HMDB0000797) | Cerebrospinal Fluid (CSF) | 921.0 (0.0-1842.0) uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| Succinyladenosine (HMDB0000912) | Cerebrospinal Fluid (CSF) | 477.0 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| Succinyladenosine (HMDB0000912) | Urine | 101-188 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Adenosine (HMDB0000050) | Urine | 6.3-7.2 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Both | details |
| Deoxyadenosine (HMDB0000101) | Urine | 2-7.2 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Both | details |
| Succinyladenosine (HMDB0000912) | Urine | 96.6-281.9 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Both | details |
| Succinylaminoimidazole carboxamide riboside (HMDB0240295) | Urine | 214 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency (201810 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Cortisol (HMDB0000063) | Blood | 0.300 +/- 0.120 uM | Abnormal | Children (1-13 years old) | Both | details |
| D-Glucose (HMDB0000122) | Blood | 4235.221 +/- 55.507 uM | Abnormal | Children (1-13 years old) | Both | details |
| Calcidiol (HMDB0003550) | Blood | 0.0599 +/- 0.0200 uM | Abnormal | Children (1-13 years old) | Both | details |
| 17a-Hydroxypregnenolone (HMDB0000363) | Blood | 0.00439 +/- 0.00896 uM | Abnormal | Children (1-13 years old) | Both | details |
| 3-Hydroxybutyric acid (HMDB0000011) | Blood | 300 +/- 390 uM | Abnormal | Children (1-13 years old) | Both | details |
| D-Glucose (HMDB0000122) | Blood | 5112.239 +/- 427.408 uM | Abnormal | Children (1-13 years old) | Both | details |
| Calcidiol (HMDB0003550) | Blood | 0.0449 +/- 0.00749 uM | Abnormal | Children (1-13 years old) | Both | details |
| 17a-Hydroxypregnenolone (HMDB0000363) | Blood | 0.136 +/- 0.129 uM | Abnormal | Children (1-13 years old) | Both | details |
| 3-Hydroxybutyric acid (HMDB0000011) | Blood | 130 +/- 80 uM | Abnormal | Children (1-13 years old) | Both | details |
| D-Glucose (HMDB0000122) | Blood | 4812.499 +/- 288.639 uM | Abnormal | Children (1-13 years old) | Both | details |
| Calcidiol (HMDB0003550) | Blood | 0.0549 +/- 0.0225 uM | Abnormal | Children (1-13 years old) | Both | details |
| Cortisol (HMDB0000063) | Blood | 0.360 +/- 0.120 uM | Abnormal | Adult (>18 years old) | Female | details |
| 3-Hydroxybutyric acid (HMDB0000011) | Blood | 300 +/- 200 uM | Abnormal | Children (1-13 years old) | Both | details |
| Cortisol (HMDB0000063) | Blood | 0.230 +/- 0.120 uM | Abnormal | Infant (0-1 year old) | Not Specified | details |
| Cortisol (HMDB0000063) | Blood | 0.360 +/- 0.100 uM | Abnormal | Adult (>18 years old) | Male | details |
| 17-Hydroxyprogesterone (HMDB0000374) | Blood | 0.00330 +/- 0.00180 uM | Abnormal | Adult (>18 years old) | Male | details |
| 17-Hydroxyprogesterone (HMDB0000374) | Blood | 0.00240 +/- 0.00220 uM | Abnormal | Adult (>18 years old) | Female | details |
| 17-Hydroxyprogesterone (HMDB0000374) | Blood | 0.00189 +/- 0.00100 uM | Abnormal | Children (1-13 years old) | Both | details |
| 17-Hydroxyprogesterone (HMDB0000374) | Blood | 0.00178 +/- 0.00144 uM | Abnormal | Infant (0-1 year old) | Not Specified | details |
| 17a-Hydroxypregnenolone (HMDB0000363) | Blood | 0.00896 +/- 0.00770 uM | Abnormal | Infant (0-1 year old) | Not Specified | details |
| 17a-Hydroxypregnenolone (HMDB0000363) | Blood | 0.00380 +/- 0.00210 uM | Abnormal | Adult (>18 years old) | Male | details |
| 17a-Hydroxypregnenolone (HMDB0000363) | Blood | 0.00300 +/- 0.00250 uM | Abnormal | Adult (>18 years old) | Female | details |
| 17a-Hydroxypregnenolone (HMDB0000363) | Blood | 0.00230 +/- 0.00200 uM | Abnormal | Children (1-13 years old) | Both | details |
| Dehydroepiandrosterone (HMDB0000077) | Blood | 0.00800 +/- 0.0100 uM | Abnormal | Infant (0-1 year old) | Not Specified | details |
| Potassium (HMDB0000586) | Blood | 6900 uM | Abnormal | Newborn (0-30 days old) | Male | details |
| alpha-D-Glucose (HMDB0003345) | Blood | 4390.642 +/- 316.393 uM | Abnormal | Children (1-13 years old) | Both | details |
| alpha-D-Glucose (HMDB0003345) | Blood | 4235.221 +/- 55.507 uM | Abnormal | Children (1-13 years old) | Both | details |
| alpha-D-Glucose (HMDB0003345) | Blood | 5112.239 +/- 427.408 uM | Abnormal | Children (1-13 years old) | Both | details |
| alpha-D-Glucose (HMDB0003345) | Blood | 4812.499 +/- 288.639 uM | Abnormal | Children (1-13 years old) | Both | details |
| Dehydroepiandrosterone sulfate (HMDB0001032) | Blood | 42.0638-105.0238 uM | Abnormal | Newborn (0-30 days old) | Male | details |
| Cortisol (HMDB0000063) | Blood | 0.0124-0.455 uM | Abnormal | Newborn (0-30 days old) | Male | details |
| Progesterone (HMDB0001830) | Blood | 0.00191-0.115 uM | Abnormal | Newborn (0-30 days old) | Male | details |
| 17-Hydroxyprogesterone (HMDB0000374) | Blood | 0.0832-0.339 uM | Abnormal | Newborn (0-30 days old) | Male | details |
| Testosterone (HMDB0000234) | Blood | 0.000624-0.0156 uM | Abnormal | Newborn (0-30 days old) | Male | details |
| Androstenedione (HMDB0000053) | Blood | 0.000698-0.0583 uM | Abnormal | Newborn (0-30 days old) | Male | details |
| Sodium (HMDB0000588) | Blood | 120000 uM | Abnormal | Newborn (0-30 days old) | Male | details |
| Dehydroepiandrosterone (HMDB0000077) | Blood | 0.0140 +/- 0.00700 uM | Abnormal | Adult (>18 years old) | Female | details |
| Chloride ion (HMDB0000492) | Blood | 96000 uM | Abnormal | Newborn (0-30 days old) | Male | details |
| Estradiol (HMDB0000151) | Blood | 0.0000294 +/- 0.000088 uM | Abnormal | Children (1-13 years old) | Both | details |
| Testosterone (HMDB0000234) | Blood | 0.00184 uM | Abnormal | Children (1-13 years old) | Both | details |
| Dehydroepiandrosterone (HMDB0000077) | Blood | 0.00246 +/- 0.00350 uM | Abnormal | Children (1-13 years old) | Both | details |
| Estradiol (HMDB0000151) | Blood | 0.000062 +/- 0.0000844 uM | Abnormal | Children (1-13 years old) | Both | details |
| Testosterone (HMDB0000234) | Blood | 0.00933 uM | Abnormal | Children (1-13 years old) | Both | details |
| Dehydroepiandrosterone (HMDB0000077) | Blood | 0.0448 +/- 0.0655 uM | Abnormal | Children (1-13 years old) | Both | details |
| 17a-Hydroxypregnenolone (HMDB0000363) | Blood | 0.0111 +/- 0.0219 uM | Abnormal | Children (1-13 years old) | Both | details |
| 3-Hydroxybutyric acid (HMDB0000011) | Blood | 250 +/- 160 uM | Abnormal | Children (1-13 years old) | Both | details |
| D-Glucose (HMDB0000122) | Blood | 4390.642 +/- 316.393 uM | Abnormal | Children (1-13 years old) | Both | details |
| 17a-Hydroxypregnenolone (HMDB0000363) | Blood | 0.176 +/- 0.186 uM | Abnormal | Children (1-13 years old) | Both | details |
| Dehydroepiandrosterone (HMDB0000077) | Blood | 0.0103 +/- 0.0100 uM | Abnormal | Newborn (0-30 days old) | Not Specified | details |
| Dehydroepiandrosterone (HMDB0000077) | Blood | 0.052 uM | Abnormal | Adult (>18 years old) | Male | details |
| Androstenedione (HMDB0000053) | Blood | 0.0041 uM | Abnormal | Adolescent (13-18 years old) | Male | details |
| Androstenedione (HMDB0000053) | Blood | 0.0017 uM | Abnormal | Adult (>18 years old) | Male | details |
| Cortisol (HMDB0000063) | Blood | 0.400 +/- 0.200 uM | Abnormal | Children (1-13 years old) | Not Specified | details |
| 17-Hydroxyprogesterone (HMDB0000374) | Blood | 0.00170 +/- 0.00190 uM | Abnormal | Children (1-13 years old) | Not Specified | details |
| 17a-Hydroxypregnenolone (HMDB0000363) | Blood | 0.00440 +/- 0.00280 uM | Abnormal | Children (1-13 years old) | Not Specified | details |
| Dehydroepiandrosterone (HMDB0000077) | Blood | 0.00520 +/- 0.00740 uM | Abnormal | Children (1-13 years old) | Not Specified | details |
| Androstenedione (HMDB0000053) | Blood | 0.000810 +/- 0.00140 uM | Abnormal | Children (1-13 years old) | Not Specified | details |
| Cortisol (HMDB0000063) | Blood | 0.300 +/- 0.200 uM | Abnormal | Newborn (0-30 days old) | Not Specified | details |
| 17-Hydroxyprogesterone (HMDB0000374) | Blood | 0.00294 +/- 0.000900 uM | Abnormal | Newborn (0-30 days old) | Not Specified | details |
| 17a-Hydroxypregnenolone (HMDB0000363) | Blood | 0.0126 +/- 0.0105 uM | Abnormal | Newborn (0-30 days old) | Not Specified | details |
| Dehydroepiandrosterone (HMDB0000077) | Blood | 0.653 uM | Abnormal | Adolescent (13-18 years old) | Male | details |
| Androstenedione (HMDB0000053) | Blood | 0.00137 +/- 0.000800 uM | Abnormal | Newborn (0-30 days old) | Not Specified | details |
| Thyroxine (HMDB0000248) | Blood | 0.0953 uM | Abnormal | Adult (>18 years old) | Female | details |
| Cortisol (HMDB0000063) | Blood | 0.152 uM | Abnormal | Adult (>18 years old) | Female | details |
| Estradiol (HMDB0000151) | Blood | 0.000099 uM | Abnormal | Adult (>18 years old) | Female | details |
| Progesterone (HMDB0001830) | Blood | 0.00223 uM | Abnormal | Adult (>18 years old) | Female | details |
| Dehydroepiandrosterone sulfate (HMDB0001032) | Blood | 5.493 uM | Abnormal | Adult (>18 years old) | Female | details |
| 17-Hydroxyprogesterone (HMDB0000374) | Blood | 0.000908 uM | Abnormal | Adult (>18 years old) | Female | details |
| 17a-Hydroxypregnenolone (HMDB0000363) | Blood | 0.0186 uM | Abnormal | Adult (>18 years old) | Female | details |
| Liothyronine (HMDB0000265) | Blood | 0.00169 uM | Abnormal | Adult (>18 years old) | Female | details |
| Testosterone (HMDB0000234) | Blood | 0.00243 uM | Abnormal | Adult (>18 years old) | Female | details |
| Dehydroepiandrosterone (HMDB0000077) | Blood | 0.0184-0.0333 uM | Abnormal | Adult (>18 years old) | Female | details |
| Androstenedione (HMDB0000053) | Blood | 0.000270-0.0480 uM | Abnormal | Children (1-13 years old) | Both | details |
| Dehydroepiandrosterone (HMDB0000077) | Blood | 0.0120 +/- 0.00700 uM | Abnormal | Adult (>18 years old) | Male | details |
| Dehydroepiandrosterone (HMDB0000077) | Blood | 0.00150 +/- 0.00120 uM | Abnormal | Children (1-13 years old) | Both | details |
| Androstenedione (HMDB0000053) | Blood | 0.00430 +/- 0.00180 uM | Abnormal | Adult (>18 years old) | Female | details |
| Androstenedione (HMDB0000053) | Blood | 0.00380 +/- 0.00100 uM | Abnormal | Adult (>18 years old) | Male | details |
| Androstenedione (HMDB0000053) | Blood | 0.00103 +/- 0.00100 uM | Abnormal | Infant (0-1 year old) | Not Specified | details |
| Androstenedione (HMDB0000053) | Blood | 0.000570 +/- 0.000200 uM | Abnormal | Children (1-13 years old) | Both | details |
| Dehydroepiandrosterone (HMDB0000077) | Blood | 0.0226-0.407 uM | Abnormal | Newborn (0-30 days old) | Both | details |
| 17-Hydroxyprogesterone (HMDB0000374) | Blood | 0.00450-0.184 uM | Abnormal | Children (1-13 years old) | Both | details |
| 17a-Hydroxypregnenolone (HMDB0000363) | Blood | 0.0843-1.262 uM | Abnormal | Newborn (0-30 days old) | Both | details |
| 17a-Hydroxypregnenolone (HMDB0000363) | Blood | 0.0264-0.103 uM | Abnormal | Children (1-13 years old) | Both | details |
| Dehydroepiandrosterone (HMDB0000077) | Blood | 0.00157-0.385 uM | Abnormal | Children (1-13 years old) | Both | details |
| Androstenedione (HMDB0000053) | Blood | 0.00279-0.00454 uM | Abnormal | Adult (>18 years old) | Female | details |
| Cortisol (HMDB0000063) | Blood | 0.280-0.480 uM | Abnormal | Children (1-13 years old) | Both | details |
| 17-Hydroxyprogesterone (HMDB0000374) | Blood | 0.00740-0.296 uM | Abnormal | Newborn (0-30 days old) | Both | details |
| Androstenedione (HMDB0000053) | Blood | 0.00175-0.0770 uM | Abnormal | Newborn (0-30 days old) | Both | details |
| Cortisol (HMDB0000063) | Blood | 0.290-0.390 uM | Abnormal | Newborn (0-30 days old) | Both | details |
| Cortisol (HMDB0000063) | Blood | 0.12 uM | Abnormal | Adolescent (13-18 years old) | Male | details |
| Cortisol (HMDB0000063) | Blood | 0.07 uM | Abnormal | Adult (>18 years old) | Male | details |
| 17-Hydroxyprogesterone (HMDB0000374) | Blood | 0.009 uM | Abnormal | Adolescent (13-18 years old) | Male | details |
| 17-Hydroxyprogesterone (HMDB0000374) | Blood | 0.0057 uM | Abnormal | Adult (>18 years old) | Male | details |
| 17a-Hydroxypregnenolone (HMDB0000363) | Blood | 0.741 uM | Abnormal | Adolescent (13-18 years old) | Male | details |
| 17a-Hydroxypregnenolone (HMDB0000363) | Blood | 0.159 uM | Abnormal | Adult (>18 years old) | Male | details |
Adrenal hypoplasia (300200 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Cortisol (HMDB0000063) | Blood | 0.001 (0.0-0.002) uM | Abnormal | Children (1-13 years old) | Both | details |
Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete (613743 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Testosterone (HMDB0000234) | Blood | <0.000104 uM | Abnormal | Newborn (0-30 days old) | Female | details |
| alpha-D-Glucose (HMDB0003345) | Blood | 555.0748 uM | Abnormal | Newborn (0-30 days old) | Female | details |
| alpha-D-Glucose (HMDB0003345) | Blood | 333.0449 uM | Abnormal | Newborn (0-30 days old) | Female | details |
| Cortisol (HMDB0000063) | Blood | <0.0276 uM | Abnormal | Newborn (0-30 days old) | Female | details |
| Cortisol (HMDB0000063) | Blood | 0.235 uM | Abnormal | Newborn (0-30 days old) | Female | details |
| Dihydrotestosterone (HMDB0002961) | Blood | <0.00006.89 uM | Abnormal | Newborn (0-30 days old) | Female | details |
| Progesterone (HMDB0001830) | Blood | <0.000318 uM | Abnormal | Newborn (0-30 days old) | Female | details |
| 17-Hydroxyprogesterone (HMDB0000374) | Blood | <0.000605 uM | Abnormal | Newborn (0-30 days old) | Female | details |
| 17a-Hydroxypregnenolone (HMDB0000363) | Blood | 0.00123 uM | Abnormal | Newborn (0-30 days old) | Female | details |
| 17a-Hydroxypregnenolone (HMDB0000363) | Blood | 0.000271 uM | Abnormal | Newborn (0-30 days old) | Female | details |
| Pregnenolone (HMDB0000253) | Blood | 0.00401 uM | Abnormal | Newborn (0-30 days old) | Female | details |
| D-Glucose (HMDB0000122) | Blood | 333.0449 uM | Abnormal | Newborn (0-30 days old) | Female | details |
| Dehydroepiandrosterone (HMDB0000077) | Blood | 0.0042 uM | Abnormal | Newborn (0-30 days old) | Female | details |
| Dehydroepiandrosterone (HMDB0000077) | Blood | 0.00101 uM | Abnormal | Newborn (0-30 days old) | Female | details |
| Androstenedione (HMDB0000053) | Blood | 0.000873 uM | Abnormal | Newborn (0-30 days old) | Female | details |
| Aldosterone (HMDB0000037) | Blood | 0.000128 uM | Abnormal | Newborn (0-30 days old) | Female | details |
| Sodium (HMDB0000588) | Blood | 125000 uM | Abnormal | Newborn (0-30 days old) | Female | details |
| Sodium (HMDB0000588) | Blood | 121000 uM | Abnormal | Newborn (0-30 days old) | Female | details |
| Potassium (HMDB0000586) | Blood | 7100 uM | Abnormal | Newborn (0-30 days old) | Female | details |
| Potassium (HMDB0000586) | Blood | 6100 uM | Abnormal | Newborn (0-30 days old) | Female | details |
| D-Glucose (HMDB0000122) | Blood | 555.0748 uM | Abnormal | Newborn (0-30 days old) | Female | details |
Adrenoleukodystrophy (300100 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| L-Pipecolic acid (HMDB0000716) | Blood | 65.0 +/- 63.0 uM | Abnormal | Newborn (0-30 days old) | Both | details |
| Trihydroxycoprostanoic acid (HMDB0002163) | Blood | 10.9 +/- 14.6 uM | Abnormal | Newborn (0-30 days old) | Both | details |
| Phytanic acid (HMDB0000801) | Blood | 72.0 (64.0-80.0) uM | Abnormal | Children (1-13 years old) | Both | details |
| Pipecolic acid (HMDB0000070) | Blood | <3.871 uM | Abnormal | Children (1-13 years old) | Not Specified | details |
| Phytanic acid (HMDB0000801) | Blood | 3.200-15.998 uM | Abnormal | Children (1-13 years old) | Not Specified | details |
| Hexacosanoic acid (HMDB0002356) | Blood | 2.571-4.512 uM | Abnormal | Adult (>18 years old) | Female | details |
| Hexacosanoic acid (HMDB0002356) | Blood | 2.26 uM | Abnormal | Children (1-13 years old) | Not Specified | details |
| Pipecolic acid (HMDB0000070) | Urine | 3.3 (1.5-5.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Pipecolic acid (HMDB0000070) | Urine | 49.4 (8.4-90.4) umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
Adrenoleukodystrophy, neonatal
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Hexacosanoic acid (HMDB0002356) | Blood | 0.993 (0.252-1.622) uM | Abnormal | Newborn (0-30 days old) | Both | details |
| Pristanic acid (HMDB0000795) | Blood | 1.5 (0.0-3.0) uM | Abnormal | Newborn (0-30 days old) | Both | details |
Adrenomyeloneuropathy (300100 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Hexacosanoic acid (HMDB0002356) | Blood | 4.10 (2.42 - 6.43) uM | Abnormal | Adult (>18 years old) | Both | details |
| Erucic acid (HMDB0002068) | Blood | 150.0 (125.0-160.0) uM | Abnormal | Adult (>18 years old) | Both | details |
AIDS
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| L-Cysteine (HMDB0000574) | Blood | 13.0 (10.0-16.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| Neopterin (HMDB0000845) | Blood | 0.0347 +/- 0.0250 uM | Abnormal | Children (1-13 years old) | Both | details |
| D-Xylose (HMDB0000098) | Blood | 2817.8 +/- 904.4 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| D-Xylose (HMDB0000098) | Blood | 2684.6 +/- 913.8 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| 5-Methyltetrahydrofolic acid (HMDB0001396) | Cerebrospinal Fluid (CSF) | 0.026 +/- 0.007 uM | Abnormal | Children (1-13 years old) | Not Specified | details |
| Mannitol (HMDB0000765) | Cerebrospinal Fluid (CSF) | 48.9 (8.24-144) uM | Abnormal | Adult (>18 years old) | Both | details |
| Quinolinic acid (HMDB0000232) | Cerebrospinal Fluid (CSF) | 3.78 +/- 0.88 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| Leukotriene C4 (HMDB0001198) | Cerebrospinal Fluid (CSF) | 0.000557 uM | Abnormal | Not Specified | Not Specified | details |
| Butyric acid (HMDB0000039) | Urine | 0.18 +/- 0.044 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
Alcoholism
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Dihydrotestosterone (HMDB0002961) | Blood | 0.0054 +/- 0.0029 uM | Abnormal | Adult (>18 years old) | Both | details |
| 7a-Hydroxy-cholestene-3-one (HMDB0001993) | Blood | 0.16 (0.09-0.25) uM | Abnormal | Adult (>18 years old) | Both | details |
| Methanol (HMDB0001875) | Blood | 227.9 +/- 112.4 uM | Abnormal | Adult (>18 years old) | Both | details |
| Ethanol (HMDB0000108) | Blood | 40615.0 +/- 17158.0 uM | Abnormal | Adult (>18 years old) | Male | details |
| Acetone (HMDB0001659) | Blood | 1520.0 (206.6-5285.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| 2-Butanol (HMDB0011469) | Blood | 313.0 (54.0-863.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| Butanone (HMDB0000474) | Blood | 682.0 (69.0-1998.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| Isopropyl alcohol (HMDB0000863) | Blood | 536.0 (66.0-1648.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| Methanol (HMDB0001875) | Blood | 1548.0 (624.0-5557.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| Ethanol (HMDB0000108) | Blood | 45393.0 (18027.0-74063.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| Tetrahydrodeoxycorticosterone (HMDB0000879) | Blood | 0.0056 +/- 0.0023 uM | Abnormal | Adult (>18 years old) | Both | details |
| Progesterone (HMDB0001830) | Blood | 0.0025 +/- 0.0017 uM | Abnormal | Adult (>18 years old) | Both | details |
| Allopregnanolone (HMDB0001449) | Blood | 0.001 +/- 0.00028 uM | Abnormal | Adult (>18 years old) | Both | details |
| 5a-Pregnane-3,20-dione (HMDB0003759) | Blood | 0.042 +/- 0.025 uM | Abnormal | Adult (>18 years old) | Both | details |
| Acetaldehyde (HMDB0000990) | Blood | 4.1 +/- 1.7 uM | Abnormal | Adult (>18 years old) | Both | details |
| Nicotinic acid (HMDB0001488) | Cerebrospinal Fluid (CSF) | 12.2 +/- 0.3 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| scyllo-Inositol (HMDB0006088) | Cerebrospinal Fluid (CSF) | 72.5 +/- 55.0 uM | Abnormal | Adult (>18 years old) | Both | details |
| Thiamine (HMDB0000235) | Cerebrospinal Fluid (CSF) | 0.01 +/- 0.00 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| Thiamine (HMDB0000235) | Cerebrospinal Fluid (CSF) | 0.02 +/- 0.00 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| Riboflavin (HMDB0000244) | Cerebrospinal Fluid (CSF) | 0.14 +/- 0.06 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| Riboflavin (HMDB0000244) | Cerebrospinal Fluid (CSF) | 0.18 +/- 0.02 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| Pantothenic acid (HMDB0000210) | Cerebrospinal Fluid (CSF) | 0.80 +/- 0.08 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| Pantothenic acid (HMDB0000210) | Cerebrospinal Fluid (CSF) | 0.96 +/- 0.47 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| Nicotinic acid (HMDB0001488) | Cerebrospinal Fluid (CSF) | 6.5 +/- 0.1 uM | Abnormal | Adult (>18 years old) | Both | details |
| Ethanol (HMDB0000108) | Urine | 3543.6 +/- 1414.6 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Male | details |
| Methanol (HMDB0001875) | Urine | 15427.0 +/- 10168.0 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Male | details |
Aldehyde dehydrogenase deficiency
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Acetaldehyde (HMDB0000990) | Blood | 30.4 +/- 20.3 uM | Abnormal | Adult (>18 years old) | Both | details |