Browsing Diseases
Displaying diseases 521 - 530 of 660 in total
Peroxisomal disorders, new type, liver
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Pipecolic acid (HMDB0000070) | Blood | 232.275-363.898 uM | Abnormal | Children (1-13 years old) | Male | details |
| Phytanic acid (HMDB0000801) | Blood | 26.557-30.717 uM | Abnormal | Children (1-13 years old) | Male | details |
| Hexacosanoic acid (HMDB0002356) | Blood | 2.0167-2.0923 uM | Abnormal | Children (1-13 years old) | Male | details |
Pervasive developmental disorder not otherwise specified
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Butyric acid (HMDB0000039) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Acetic acid (HMDB0000042) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Ethanol (HMDB0000108) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Phenol (HMDB0000228) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Propionic acid (HMDB0000237) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| 3-Methylindole (HMDB0000466) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Butanone (HMDB0000474) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Caproic acid (HMDB0000535) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Heptanoic acid (HMDB0000666) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Isovaleric acid (HMDB0000718) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Indole (HMDB0000738) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| 3-Hexanone (HMDB0000753) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Oenanthic ether (HMDB0000798) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Valeric acid (HMDB0000892) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Octanal (HMDB0001140) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Octanol (HMDB0001183) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Octane (HMDB0001485) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Benzene (HMDB0001505) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| p-Cresol (HMDB0001858) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Ethylmethylacetic acid (HMDB0002176) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Methyl isobutyl ketone (HMDB0002939) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Menthol (HMDB0003352) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| (+)-Limonene (HMDB0003375) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| 4-Heptanone (HMDB0004814) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Geraniol (HMDB0005812) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Dimethyldisulfide (HMDB0005879) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Benzaldehyde (HMDB0006115) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Phenylacetaldehyde (HMDB0006236) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| 1-Pentanol (HMDB0013036) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Dimethyl trisulfide (HMDB0013780) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| 4-(1,1,3,3-Tetramethylbutyl)-phenol (HMDB0013825) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Chloroform (HMDB0029596) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Hexyl acetate (HMDB0029980) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Methyl pentanoate (HMDB0031207) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Ethyl acetate (HMDB0031217) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| 2,6-Dimethyl-4-heptanone (HMDB0031417) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Methyl heptanoate (HMDB0031478) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| 1-Heptanol (HMDB0031479) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| xi-3-Heptanol (HMDB0031481) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Methyl acetate (HMDB0031523) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| 4-tert-Butylphenol (HMDB0032063) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| 1-Phenylethanol (HMDB0032619) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Hexyl butyrate (HMDB0033620) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| (±)-3-Methyl-1-pentanol (HMDB0033676) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Ethyl butyrate (HMDB0033889) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Methyl butyrate (HMDB0033890) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| (±)-2-Heptanol (HMDB0033908) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| 3-Methylbutyl formate (HMDB0034163) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Propyl hexanoate (HMDB0034165) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Toluene (HMDB0034168) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Carbon disulfide (HMDB0036574) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| 1-Isopropyl-2-methylbenzene (HMDB0037050) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Propyl butyrate (HMDB0039618) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Ethyl hexanoate (HMDB0040209) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| 2-Pentylthiophene (HMDB0040240) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Ethyl pentanoate (HMDB0040297) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Nonanal (HMDB0059835) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| o-Xylene (HMDB0059851) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Ethyl isovalerate (HMDB0030028) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Ethyl 2-methylpropanoate (HMDB0031248) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Hexyl propionate (HMDB0034606) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Butyl butyrate (HMDB0039620) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Hexyl valerate (HMDB0062119) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| 1-Methylethyl heptanoic acid (HMDB0094654) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| 1-[2-Methyl-3-(methylthio) allyl]cyclohex-2-enol (HMDB0094658) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| 1,1-Dimethylethyl heptanoic acid (HMDB0094659) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Diethyl phthalic acid (HMDB0094660) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| 1-Phenyl-2-hexanone (HMDB0094661) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| 2,2,4,6,6-Pentamethyl-3-heptene (HMDB0094665) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Methyl neopentyl phthalic acid (HMDB0094669) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| 1,4-Bis-(1,1-dimethylethyl)-benzene (HMDB0094670) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Hexadecyl Benzoic acid (HMDB0094685) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Furanone A (HMDB0094691) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| 6-Methyl-1-heptene (HMDB0094705) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| 2-Propyl-1-pentanol (HMDB0094707) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| 2-Phenylethanol (HMDB0033944) | Feces | 27.286 (0-54.571) nmol/g wet feces | Abnormal | Children (1 - 13 years old) | Both | details |
| xi-2-Ethylheptanoic acid (HMDB0030331) | Feces | 42.131 (0-400.241) nmol/g wet feces | Abnormal | Children (1 - 13 years old) | Both | details |
| Butyl 3-methylbutanoate (HMDB0032042) | Feces | 84.261 (0-315.980) nmol/g wet feces | Abnormal | Children (1 - 13 years old) | Both | details |
| 2-Ethylhexanoic acid (HMDB0031230) | Feces | 115.571 (0-808.998) nmol/g wet feces | Abnormal | Children (1 - 13 years old) | Both | details |
| (±)-2-Methylpentanoic acid (HMDB0031580) | Feces | 1176.555 (57.393-6657.581) nmol/g wet feces | Abnormal | Children (1 - 13 years old) | Both | details |
| 3-Methylpentanoic acid (HMDB0033774) | Feces | 1176.555 (57.393-6657.581) nmol/g wet feces | Abnormal | Children (1 - 13 years old) | Both | details |
| Ethyl propionate (HMDB0030058) | Feces | 6723.345 (326.376-22193.566) nmol/g wet feces | Abnormal | Children (1 - 13 years old) | Both | details |
Phenylketonuria (261600 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Cysteinylglycine (HMDB0000078) | Blood | 6.0 (2.0-10.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Phenylalanine (HMDB0000159) | Blood | 571.0 - 1023.0 uM | Abnormal | Newborn (0-30 days old) | Both | details |
| L-Valine (HMDB0000883) | Blood | 81.0 - 122.0 uM | Abnormal | Newborn (0-30 days old) | Both | details |
| 17-Hydroxyprogesterone (HMDB0000374) | Blood | 0.152 (0.0022- 0.302) uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Leucine (HMDB0000687) | Blood | 66.0 - 161.0 uM | Abnormal | Newborn (0-30 days old) | Both | details |
| Phenylpyruvic acid (HMDB0000205) | Blood | 50.0 (40.0-60.0) uM | Abnormal | Newborn (0-30 days old) | Both | details |
| Phenyllactic acid (HMDB0000779) | Blood | 0-82.9 uM | Abnormal | Children (1-13 years old) | Both | details |
| L-3-Phenyllactic acid (HMDB0000748) | Blood | 0-82.9 uM | Abnormal | Children (1-13 years old) | Both | details |
| N-Lactoylphenylalanine (HMDB0062175) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Not Specified | details |
| L-Phenylalanine (HMDB0000159) | Blood | 1210.734 uM | Abnormal | Infant (0-1 year old) | Male | details |
| L-Phenylalanine (HMDB0000159) | Blood | 1004.909-1210.734 uM | Abnormal | Children (1 - 13 years old) | Male | details |
| Phenylacetic acid (HMDB0000209) | Urine | 55.6 +/- 87.3 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Both | details |
| gamma-Glutamylphenylalanine (HMDB0000594) | Urine | 43.00 (8.00-78.00) umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Both | details |
| Phenylpyruvic acid (HMDB0000205) | Urine | 146.6 +/- 244.6 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Both | details |
| Phenyllactic acid (HMDB0000779) | Urine | 149.7 +/- 208.5 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Both | details |
| 3-Hydroxyphenylacetic acid (HMDB0000440) | Urine | 0.67 +/- 2.94 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Both | details |
| ortho-Hydroxyphenylacetic acid (HMDB0000669) | Urine | 36.53 +/- 39.59 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Both | details |
| Hydroxyphenyllactic acid (HMDB0000755) | Urine | 12.6 +/- 36.00 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Both | details |
| 4-Hydroxyphenylpyruvic acid (HMDB0000707) | Urine | 24.00 +/- 30.5 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Both | details |
| Phenylacetic acid (HMDB0000209) | Urine | 55.00 +/- 87.00 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Both | details |
| Mandelic acid (HMDB0000703) | Urine | 8.00 +/- 9.00 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Both | details |
| Acetic acid (HMDB0000042) | Urine | 16.3 +/- 7.1 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Acetic acid (HMDB0000042) | Urine | 375.3 +/- 6.3 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Betaine (HMDB0000043) | Urine | 8.5 +/- 0.4 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Betaine (HMDB0000043) | Urine | 14.3 +/- 2.7 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Citric acid (HMDB0000094) | Urine | 81.8 +/- 10.4 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Citric acid (HMDB0000094) | Urine | 291.9 +/- 14.6 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Creatinine (HMDB0000562) | Urine | 3938 +/- 279 uM | Abnormal | Adult (>18 years old) | Both | details |
| Creatinine (HMDB0000562) | Urine | 6112 +/- 305 uM | Abnormal | Adult (>18 years old) | Both | details |
| Glycine (HMDB0000123) | Urine | 82.2 +/- 4.1 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Glycine (HMDB0000123) | Urine | 304.8 +/- 11.3 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Hippuric acid (HMDB0000714) | Urine | 50.2 +/- 4.4 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| L-Histidine (HMDB0000177) | Urine | 62.6 +/- 12.3 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| L-Histidine (HMDB0000177) | Urine | 68 +/- 19.9 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| p-Hydroxyphenylacetic acid (HMDB0000020) | Urine | 44.586 +/- 66.136 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| p-Hydroxyphenylacetic acid (HMDB0000020) | Urine | 46.0719 +/- 45.329 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| p-Hydroxyphenylacetic acid (HMDB0000020) | Urine | 47.558 +/- 69.108 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| Homovanillic acid (HMDB0000118) | Urine | 4.903 +/- 2.358 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| Homovanillic acid (HMDB0000118) | Urine | 5.0891 +/- 1.738 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| Homovanillic acid (HMDB0000118) | Urine | 7.447 +/- 3.848 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| L-Phenylalanine (HMDB0000159) | Urine | 253.238 umol/mmol creatinine | Abnormal | Children (1 - 13 years old) | Male | details |
| L-Phenylalanine (HMDB0000159) | Urine | 414.763 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
| Phenylpyruvic acid (HMDB0000205) | Urine | 7796.386 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
| Phenylpyruvic acid (HMDB0000205) | Urine | 31047.8 umol/mmol creatinine | Abnormal | Children (1 - 13 years old) | Male | details |
| Phenylpyruvic acid (HMDB0000205) | Urine | 255.518 +/- 250.00780 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| Phenylpyruvic acid (HMDB0000205) | Urine | 735.560 +/- 528.253 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| Phenylpyruvic acid (HMDB0000205) | Urine | 882.948 +/- 741.0699 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| Vanillylmandelic acid (HMDB0000291) | Urine | 15.404 +/- 14.833 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| Vanillylmandelic acid (HMDB0000291) | Urine | 4.564 +/- 1.369 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| Vanillylmandelic acid (HMDB0000291) | Urine | 9.128 +/- 4.450 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| ortho-Hydroxyphenylacetic acid (HMDB0000669) | Urine | 151.592 +/- 98.0886 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| ortho-Hydroxyphenylacetic acid (HMDB0000669) | Urine | 48.301 +/- 20.0636 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| ortho-Hydroxyphenylacetic acid (HMDB0000669) | Urine | 97.346 +/- 59.448 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| Mandelic acid (HMDB0000703) | Urine | 14.119 +/- 5.722 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| Mandelic acid (HMDB0000703) | Urine | 34.182 +/- 22.293 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| Mandelic acid (HMDB0000703) | Urine | 35.669 +/- 20.0636 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| 4-Hydroxyphenylpyruvic acid (HMDB0000707) | Urine | 2.447 +/- 20.710 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| 4-Hydroxyphenylpyruvic acid (HMDB0000707) | Urine | 33.261 +/- 20.0820 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| 4-Hydroxyphenylpyruvic acid (HMDB0000707) | Urine | 33.261 +/- 26.985 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| Hydroxyphenyllactic acid (HMDB0000755) | Urine | 139.639 +/- 122.882 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| Hydroxyphenyllactic acid (HMDB0000755) | Urine | 74.474 +/- 94.334 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| Hydroxyphenyllactic acid (HMDB0000755) | Urine | 75.0948 +/- 98.678 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| Phenyllactic acid (HMDB0000779) | Urine | 31.297 +/- 11.566 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| Phenyllactic acid (HMDB0000779) | Urine | 361.277 +/- 500.0731 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| Phenyllactic acid (HMDB0000779) | Urine | 48.306 +/- 24.493 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| Phenyllactic acid (HMDB0000779) | Urine | 59.873 +/- 34.699 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| Phenyllactic acid (HMDB0000779) | Urine | 786.510 +/- 1020.557 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| Phenyllactic acid (HMDB0000779) | Urine | 796.0348 +/- 753.852 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| Meta-hydroxyphenylhydracrylic Acid (HMDB0062595) | Urine | 14.895 +/- 9.930 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| Meta-hydroxyphenylhydracrylic Acid (HMDB0062595) | Urine | 7.447 +/- 5.151 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| Meta-hydroxyphenylhydracrylic Acid (HMDB0062595) | Urine | 9.309 +/- 4.779 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
Pheochromocytoma (171300 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Metanephrine (HMDB0004063) | Blood | 0.00054 +/- 0.002 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| Norepinephrine (HMDB0000216) | Blood | 0.004 +/- 0.022 uM | Abnormal | Adult (>18 years old) | Both | details |
| Epinephrine (HMDB0000068) | Blood | 0.00029 (0.00005-0.00054) uM | Abnormal | Adult (>18 years old) | Both | details |
| Epinephrine (HMDB0000068) | Blood | 0.0025 (0.0002-0.0048) uM | Abnormal | Adult (>18 years old) | Both | details |
| Normetanephrine (HMDB0000819) | Cerebrospinal Fluid (CSF) | 0.000185 +/- 0.00004424 uM | Abnormal | Not Specified | Not Specified | details |
Phosphoenolpyruvate Carboxykinase Deficiency 1, Cytosolic (261680 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| D-Glucose (HMDB0000122) | Blood | 900 uM | Abnormal | Newborn (0-30 days old) | Female | details |
| D-Glucose (HMDB0000122) | Blood | 800-3200 uM | Abnormal | Children (1-13 years old) | Both | details |
| D-Glucose (HMDB0000122) | Blood | 2800 uM | Abnormal | Children (1-13 years old) | Male | details |
| L-Lactic acid (HMDB0000190) | Blood | 850-2050 uM | Abnormal | Children (1-13 years old) | Both | details |
| L-Lactic acid (HMDB0000190) | Blood | 2900 uM | Abnormal | Newborn (0-30 days old) | Male | details |
| Ammonia (HMDB0000051) | Blood | 25-30 uM | Abnormal | Children (1-13 years old) | Both | details |
| Ammonia (HMDB0000051) | Blood | 146 uM | Abnormal | Newborn (0-30 days old) | Male | details |
| L-Arginine (HMDB0000517) | Blood | 12-59 uM | Abnormal | Children (1-13 years old) | Both | details |
| L-Arginine (HMDB0000517) | Blood | 10 uM | Abnormal | Newborn (0-30 days old) | Male | details |
| L-Glutamine (HMDB0000641) | Blood | 508-1087 uM | Abnormal | Children (1-13 years old) | Both | details |
| L-Glutamine (HMDB0000641) | Blood | 1731 uM | Abnormal | Newborn (0-30 days old) | Male | details |
| Citrulline (HMDB0000904) | Blood | 6-21 uM | Abnormal | Children (1-13 years old) | Both | details |
| Citrulline (HMDB0000904) | Blood | 5 uM | Abnormal | Newborn (0-30 days old) | Male | details |
| alpha-D-Glucose (HMDB0003345) | Blood | 2800 uM | Abnormal | Children (1-13 years old) | Male | details |
| alpha-D-Glucose (HMDB0003345) | Blood | 900 uM | Abnormal | Newborn (0-30 days old) | Female | details |
| alpha-D-Glucose (HMDB0003345) | Blood | 800-3200 uM | Abnormal | Children (1-13 years old) | Both | details |
| Orotic acid (HMDB0000226) | Urine | 5.4 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Male | details |
Phosphoribosylpyrophosphate Synthetase Superactivity (300661 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Uric acid (HMDB0000289) | Blood | 505.620-678.126 uM | Abnormal | Infant (0-1 year old) | Male | details |
| Uric acid (HMDB0000289) | Blood | 565.105-690.0232 uM | Abnormal | Children (1-13 years old) | Male | details |
| Uric acid (HMDB0000289) | Blood | 553.208 uM | Abnormal | Adult (>18 years old) | Female | details |
| Creatinine (HMDB0000562) | Blood | 53.042 uM | Abnormal | Adult (>18 years old) | Female | details |
| Hypoxanthine (HMDB0000157) | Blood | 3.1 uM | Abnormal | Adult (>18 years old) | Female | details |
| Xanthine (HMDB0000292) | Blood | 1.1 uM | Abnormal | Adult (>18 years old) | Female | details |
| Uric acid (HMDB0000289) | Urine | 645.633 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Female | details |
| Uric acid (HMDB0000289) | Urine | 1237.464-2192.463 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Male | details |
| Hypoxanthine (HMDB0000157) | Urine | 16.846 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Female | details |
| Xanthine (HMDB0000292) | Urine | 524.146 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Female | details |
Phosphoserine Aminotransferase Deficiency (610992 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Glycine (HMDB0000123) | Blood | 121 uM | Abnormal | Infant (0-1 year old) | Male | details |
| Glycine (HMDB0000123) | Blood | 110 uM | Abnormal | Newborn (0-30 days old) | Female | details |
| L-Serine (HMDB0000187) | Blood | 51 uM | Abnormal | Infant (0-1 year old) | Male | details |
| L-Serine (HMDB0000187) | Blood | 30 uM | Abnormal | Newborn (0-30 days old) | Female | details |
| Glycine (HMDB0000123) | Cerebrospinal Fluid (CSF) | <1 uM | Abnormal | Infant (0-1 year old) | Male | details |
| Glycine (HMDB0000123) | Cerebrospinal Fluid (CSF) | <1 uM | Abnormal | Newborn (0-30 days old) | Female | details |
| L-Serine (HMDB0000187) | Cerebrospinal Fluid (CSF) | 18 uM | Abnormal | Infant (0-1 year old) | Male | details |
| L-Serine (HMDB0000187) | Cerebrospinal Fluid (CSF) | 5 uM | Abnormal | Newborn (0-30 days old) | Female | details |
Phosphoserine Phosphatase Deficiency (614023 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Glycine (HMDB0000123) | Blood | 77-97 uM | Abnormal | Infant (0-1 year old) | Male | details |
| L-Serine (HMDB0000187) | Blood | 29-55 uM | Abnormal | Infant (0-1 year old) | Male | details |
| L-Serine (HMDB0000187) | Blood | 53-80 uM | Abnormal | Children (1-13 years old) | Male | details |
| L-Serine (HMDB0000187) | Blood | 18 uM | Abnormal | Children (1-13 years old) | Male | details |
| Glycine (HMDB0000123) | Cerebrospinal Fluid (CSF) | 2.8 uM | Abnormal | Infant (0-1 year old) | Male | details |
| Glycine (HMDB0000123) | Cerebrospinal Fluid (CSF) | 3 uM | Abnormal | Children (1-13 years old) | Male | details |
| L-Serine (HMDB0000187) | Cerebrospinal Fluid (CSF) | 6 uM | Abnormal | Infant (0-1 year old) | Male | details |
| L-Serine (HMDB0000187) | Cerebrospinal Fluid (CSF) | 8 uM | Abnormal | Children (1-13 years old) | Male | details |
Pituitary Hormone Deficiency, Combined, 1 (613038 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Thyroxine (HMDB0000248) | Blood | <0.0100 uM | Abnormal | Children (1-13 years old) | Male | details |
| Thyroxine (HMDB0000248) | Blood | 0.000009 uM | Abnormal | Children (1-13 years old) | Female | details |
| Thyroxine (HMDB0000248) | Blood | 0.00000219 uM | Abnormal | Adult (>18 years old) | Male | details |
| Thyroxine (HMDB0000248) | Blood | 0.00000557 uM | Abnormal | Children (1-13 years old) | Male | details |
Polycystic ovary syndrome (184700 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Androstenedione (HMDB0000053) | Blood | 0.0090 +/- 0.0046 uM | Abnormal | Adult (>18 years old) | Female | details |
| Dehydroepiandrosterone sulfate (HMDB0001032) | Blood | 3.63 +/- 2.14 uM | Abnormal | Adult (>18 years old) | Female | details |
| Androstenedione (HMDB0000053) | Blood | 0.0066 +/- 0.0038 uM | Abnormal | Adult (>18 years old) | Female | details |