Browsing Diseases
Argininosuccinic aciduria (207900 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Ammonia (HMDB0000051) | Blood | 1100.0 (200.0-2000.0) uM | Abnormal | Children (1-13 years old) | Both | details |
| Citrulline (HMDB0000904) | Blood | 27.5 (10.0-45.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| Citrulline (HMDB0000904) | Blood | 200.0 (100.0-300.0) uM | Abnormal | Children (1-13 years old) | Both | details |
| Ammonia (HMDB0000051) | Blood | 94 uM | Abnormal | Children (1-13 years old) | Male | details |
| Ammonia (HMDB0000051) | Blood | 62 uM | Abnormal | Infant (0-1 year old) | Male | details |
| Argininosuccinic acid (HMDB0000052) | Blood | 1515 uM | Abnormal | Infant (0-1 year old) | Male | details |
| Citrulline (HMDB0000904) | Blood | 284 uM | Abnormal | Infant (0-1 year old) | Male | details |
| Argininosuccinic acid (HMDB0000052) | Urine | 1542.00 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Acetic acid (HMDB0000042) | Urine | 54.1 +/- 23.8 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| L-Arginine (HMDB0000517) | Urine | 1941.3 +/- 122.5 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Betaine (HMDB0000043) | Urine | 210.1 +/- 16.4 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Citric acid (HMDB0000094) | Urine | 80.9 +/- 1.8 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Glycine (HMDB0000123) | Urine | 53.1 +/- 1.8 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Hippuric acid (HMDB0000714) | Urine | 20.5 +/- 0.7 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| L-Histidine (HMDB0000177) | Urine | 52.9 +/- 12.5 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Trimethylamine N-oxide (HMDB0000925) | Urine | 38.1 +/- 2.9 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Argininosuccinic acid (HMDB0000052) | Urine | 667 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
Argininosuccinyl-CoA lyase deficiency
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Argininosuccinic acid (HMDB0000052) | Blood | 300.0 (270.0-458.0) uM | Abnormal | Children (1-13 years old) | Female | details |
Aromatase deficiency (613546 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Cortisol (HMDB0000063) | Blood | 0.558 uM | Abnormal | Children (1-13 years old) | Female | details |
| Dehydroepiandrosterone (HMDB0000077) | Blood | 0.0016 uM | Abnormal | Children (1-13 years old) | Female | details |
| Estrone (HMDB0000145) | Blood | <0.00004 uM | Abnormal | Children (1-13 years old) | Female | details |
| Estriol (HMDB0000153) | Blood | <0.00000002 uM | Abnormal | Children (1-13 years old) | Female | details |
| Dehydroepiandrosterone sulfate (HMDB0001032) | Blood | <0.810 uM | Abnormal | Children (1-13 years old) | Female | details |
| Estradiol (HMDB0000151) | Blood | <0.000005 uM | Abnormal | Children (1-13 years old) | Female | details |
| Testosterone (HMDB0000234) | Blood | <0.000002 uM | Abnormal | Children (1-13 years old) | Female | details |
Aromatic L-amino acid decarboxylase deficiency (608643 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Vanylglycol (HMDB0001490) | Cerebrospinal Fluid (CSF) | 0.003 +/- 0.003 uM | Abnormal | Adult (>18 years old) | Both | details |
| 3-Methoxytyrosine (HMDB0001434) | Cerebrospinal Fluid (CSF) | 1.2 (1.0-1.6) uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| 3-Methoxytyrosine (HMDB0001434) | Cerebrospinal Fluid (CSF) | 1.2 +/- 0.0 uM | Abnormal | Infant (0-1 year old) | Male | details |
| 5-Hydroxyindoleacetic acid (HMDB0000763) | Cerebrospinal Fluid (CSF) | 0.0025 (0.0000-0.0050) uM | Abnormal | Infant (0-1 year old) | Male | details |
| Homovanillic acid (HMDB0000118) | Cerebrospinal Fluid (CSF) | 0.083 +/- 0.000 uM | Abnormal | Infant (0-1 year old) | Male | details |
| Vanylglycol (HMDB0001490) | Cerebrospinal Fluid (CSF) | 0.003 (0.000-0.005) uM | Abnormal | Infant (0-1 year old) | Male | details |
| Homovanillic acid (HMDB0000118) | Cerebrospinal Fluid (CSF) | 0.128 uM | Abnormal | Infant (0-1 year old) | Female | details |
| Homovanillic acid (HMDB0000118) | Cerebrospinal Fluid (CSF) | 0.0820-0.149 uM | Abnormal | Children (1-13 years old) | Female | details |
| 5-Hydroxy-L-tryptophan (HMDB0000472) | Cerebrospinal Fluid (CSF) | 0.063 uM | Abnormal | Infant (0-1 year old) | Female | details |
| 5-Hydroxy-L-tryptophan (HMDB0000472) | Cerebrospinal Fluid (CSF) | 0.0970-0.136 uM | Abnormal | Children (1-13 years old) | Female | details |
| 5-Hydroxyindoleacetic acid (HMDB0000763) | Cerebrospinal Fluid (CSF) | 0.027 uM | Abnormal | Infant (0-1 year old) | Female | details |
| 5-Hydroxyindoleacetic acid (HMDB0000763) | Cerebrospinal Fluid (CSF) | 0.0120-0.0220 uM | Abnormal | Children (1-13 years old) | Female | details |
| N-Acetylvanilalanine (HMDB0011716) | Urine | 10 +/- 2 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
| Vanilpyruvic acid (HMDB0011714) | Urine | 10 +/- 2 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
| N-Acetyl-L-tyrosine (HMDB0000866) | Urine | 10 +/- 2 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
| Vanillylmandelic acid (HMDB0000291) | Urine | 0.15 (0.00-0.30) umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
| 5-Hydroxyindoleacetic acid (HMDB0000763) | Urine | 0.9 +/- 0.0 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
| Homovanillic acid (HMDB0000118) | Urine | 2.9 +/- 0.0 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
| Dopamine (HMDB0000073) | Urine | 2426 +/- 0 nmol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
| Dopamine (HMDB0000073) | Urine | 3.119 +/- 0 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
| Dopamine (HMDB0000073) | Urine | 2.7 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Female | details |
| Dopamine (HMDB0000073) | Urine | 3.91 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Female | details |
| Homovanillic acid (HMDB0000118) | Urine | 15.5 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Female | details |
| Homovanillic acid (HMDB0000118) | Urine | 34.1 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Female | details |
| L-Dopa (HMDB0000181) | Urine | 8.683 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Female | details |
| L-Dopa (HMDB0000181) | Urine | 11.38 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Female | details |
| Serotonin (HMDB0000259) | Urine | 0.188 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Female | details |
| Serotonin (HMDB0000259) | Urine | 0.221 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Female | details |
| Vanillylmandelic acid (HMDB0000291) | Urine | 0.5 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Female | details |
| Vanillylmandelic acid (HMDB0000291) | Urine | 0.9 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Female | details |
| 5-Hydroxyindoleacetic acid (HMDB0000763) | Urine | 0.2 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Female | details |
| 5-Hydroxyindoleacetic acid (HMDB0000763) | Urine | 2.2 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Female | details |
| Normetanephrine (HMDB0000819) | Urine | 0.016 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Female | details |
| Normetanephrine (HMDB0000819) | Urine | 0.055 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Female | details |
| Vanillactic acid (HMDB0000913) | Urine | 11.3 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Female | details |
| Vanillactic acid (HMDB0000913) | Urine | 12.7 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Female | details |
Aseptic meningitis
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Leukotriene B4 (HMDB0001085) | Cerebrospinal Fluid (CSF) | 0.00477 +/- 0.000813 uM | Abnormal | Children (1-13 years old) | Not Specified | details |
| Leukotriene C4 (HMDB0001198) | Cerebrospinal Fluid (CSF) | 0.000185 +/- 0.00007628 uM | Abnormal | Children (1-13 years old) | Not Specified | details |
Aspartylglucosaminuria (208400 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Aspartylglycosamine (HMDB0000489) | Urine | 0.6 (0.20-1.00) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Aspartylglycosamine (HMDB0000489) | Urine | 175.0 (100.0-250.0) umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| Aspartylglycosamine (HMDB0000489) | Urine | 87.680 (39.963-166.0153) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Aspartylglycosamine (HMDB0000489) | Urine | 70.383 (30.420-97.621) umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
Asthma (600807 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| 5-HETE (HMDB0011134) | Blood | 1.605 +/- 0.209 uM | Abnormal | Adult (>18 years old) | Both | details |
| Octane (HMDB0001485) | Breath | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Acetone (HMDB0001659) | Breath | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Biphenyl (HMDB0034437) | Breath | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| 2-Undecenal (HMDB0040247) | Breath | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| 2-Methylpentane (HMDB0061884) | Breath | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| 2,4-Dimethylheptane (HMDB0062017) | Breath | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Pentane (HMDB0029603) | Breath | Not Quantified | Abnormal | Adult (>18 years old) | Not Specified | details |
| 2,4-Dimethylheptane (HMDB0062017) | Breath | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| 4-Methyloctane (HMDB0062061) | Breath | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Acetone (HMDB0001659) | Breath | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| N-Decane (HMDB0031450) | Breath | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| N-Dodecane (HMDB0031444) | Breath | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Tetradecane (HMDB0059907) | Breath | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| 1-Dodecene (HMDB0059874) | Breath | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| 3,6-Dimethyldecane (HMDB0062050) | Breath | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Sulcatone (HMDB0035915) | Breath | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Decanal (HMDB0011623) | Breath | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Lauric aldehyde (HMDB0033933) | Breath | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Nonanal (HMDB0059835) | Breath | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Nonane (HMDB0029595) | Breath | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Benzoic acid (HMDB0001870) | Breath | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Butyric acid (HMDB0000039) | Breath | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| p-Xylene (HMDB0059924) | Breath | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Tridecane (HMDB0034284) | Breath | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Undecane (HMDB0031445) | Breath | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| 2,3-Dimethylheptane (HMDB0062013) | Breath | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| 2,4-Dimethylheptane (HMDB0062017) | Breath | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| 4-Methyloctane (HMDB0062061) | Breath | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Acetic acid (HMDB0000042) | Breath | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Acetone (HMDB0001659) | Breath | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Isopropyl alcohol (HMDB0000863) | Breath | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Toluene (HMDB0034168) | Breath | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| P-Dichlorobenzene (HMDB0041971) | Breath | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| 1,7-Dimethylnaphthalene (HMDB0059854) | Breath | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| 2-Octenal (HMDB0030961) | Breath | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| 1-Isopropyl-3-methylbenzene (HMDB0037051) | Breath | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Ethylbenzene (HMDB0059905) | Breath | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| (+)-Limonene (HMDB0003375) | Breath | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Butanone (HMDB0000474) | Breath | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| 2-Methyldecane (HMDB0039000) | Breath | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| 2,6-Di-tert-butylbenzoquinone (HMDB0013817) | Breath | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| 4-Ethyl-o-xylene (HMDB0059832) | Breath | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| 3-(Methylthio)-1-propene (HMDB0031653) | Breath | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Benzyl alcohol (HMDB0003119) | Breath | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Pentadecanal (HMDB0031078) | Breath | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Terpinolene (HMDB0036994) | Breath | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Propylene glycol (HMDB0001881) | Breath | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Hemimellitene (HMDB0059901) | Breath | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| P-Dichlorobenzene (HMDB0041971) | Breath | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Allyl alcohol (HMDB0031652) | Breath | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| 2,4-Octadiene (HMDB0061900) | Breath | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| 2,4,6-Trimethyldecane (HMDB0062020) | Breath | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| 4-Methyl-2-pentenal (HMDB0031196) | Breath | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| 6-Methyl-2-heptanone (HMDB0062076) | Breath | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Acetophenone (HMDB0033910) | Breath | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| hexadecan-2-ol (HMDB0166492) | Breath | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Naphthalene (HMDB0029751) | Breath | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Valeric acid (HMDB0000892) | Breath | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| 1,7-Dimethyluric acid (HMDB0011103) | Urine | 20.0 (5.7-32.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| 1,3-Dimethyluric acid (HMDB0001857) | Urine | 33.0 (21.8-52.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| 7-Methylxanthine (HMDB0001991) | Urine | 10.0 (2.7-17.8) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| 3-Methylxanthine (HMDB0001886) | Urine | 8.0 (5.0-14.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| 1-Methylxanthine (HMDB0010738) | Urine | 6.0 (4.0-10.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Theobromine (HMDB0002825) | Urine | 3.6 (1.0-7.3) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Paraxanthine (HMDB0001860) | Urine | 3.6 (1.8-5.4) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Theophylline (HMDB0001889) | Urine | 7.0 (3.2-11.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| 1,3,7-Trimethyluric acid (HMDB0002123) | Urine | 2.19 (0.0-5.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Caffeine (HMDB0001847) | Urine | 0.5 (0.0-1.35) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| 11b-PGF2a (HMDB0010199) | Urine | 0.00021 (0.000099-0.00039) umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| 11b-PGF2a (HMDB0010199) | Urine | 0.00044 (0.00016-0.00058) umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| 3-Chlorotyrosine (HMDB0001885) | Urine | 0.0023 +/- 0.0016 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Isoleucylproline (HMDB0011174) | Urine | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
Athyreosis
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Iodotyrosine (HMDB0000021) | Blood | 0.00032 +/- 0.00008 uM | Abnormal | Adult (>18 years old) | Both | details |
ATIC deficiency (608688 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| SAICAR (HMDB0000797) | Cerebrospinal Fluid (CSF) | Not Quantified | Abnormal | Children (1-13 years old) | Female | details |
| AICA-riboside (HMDB0062179) | Urine | Not Quantified | Abnormal | Infant (0-1 year old) | Female | details |
| SAICAR (HMDB0000797) | Urine | Not Quantified | Abnormal | Children (1-13 years old) | Female | details |
Atrophic gastritis
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| 7a-Hydroxy-cholestene-3-one (HMDB0001993) | Blood | 0.127 uM | Abnormal | Adult (>18 years old) | Both | details |