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Browsing Diseases
Displaying diseases 271 - 280 of 660 in total
Glucose-6-phosphate dehydrogenase deficiency (300908 )
Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
---|---|---|---|---|---|---|
Bilirubin (HMDB0000054) | Blood | 380.733 +/- 142.989 uM | Abnormal | Newborn (0-30 days old) | Both | details |
Glutamate formiminotransferase deficiency (229100 )
Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
---|---|---|---|---|---|---|
Formiminoglutamic acid (HMDB0000854) | Urine | 780.114-1876.796 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
Glutamine deficiency, congenital (610015 )
Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
---|---|---|---|---|---|---|
L-Glutamine (HMDB0000641) | Blood | 2-6 uM | Abnormal | Newborn (0-30 days old) | Both | details |
L-Glutamine (HMDB0000641) | Cerebrospinal Fluid (CSF) | 11-12 uM | Abnormal | Newborn (0-30 days old) | Both | details |
L-Glutamine (HMDB0000641) | Urine | 0-8 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Both | details |
Glutaric acidemia type 2 (231680 )
Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
---|---|---|---|---|---|---|
Glycolic acid (HMDB0000115) | Urine | <20.813 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Male | details |
Glycolic acid (HMDB0000115) | Urine | 52.0319-156.0957 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Female | details |
L-Glyceric acid (HMDB0006372) | Urine | 430.594 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Male | details |
L-Glyceric acid (HMDB0006372) | Urine | 590.468-4130.0778 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Female | details |
Glutaric aciduria I
Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
---|---|---|---|---|---|---|
3-Hydroxyglutaric acid (HMDB0000428) | Blood | 1.8 uM | Abnormal | Newborn (0-30 days old) | Male | details |
Glutaric acid (HMDB0000661) | Blood | 12 uM | Abnormal | Newborn (0-30 days old) | Male | details |
3-Hydroxyglutaric acid (HMDB0000428) | Cerebrospinal Fluid (CSF) | 2.2 uM | Abnormal | Newborn (0-30 days old) | Male | details |
Glutaric acid (HMDB0000661) | Cerebrospinal Fluid (CSF) | 43 uM | Abnormal | Newborn (0-30 days old) | Male | details |
Glutaconic acid (HMDB0000620) | Urine | 1.0 (0.0-2.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
Glutaconic acid (HMDB0000620) | Urine | 180.0 (0.00-360.0) umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
3-Hydroxyglutaric acid (HMDB0000428) | Urine | 3.68 umol/mmol creatinine | Abnormal | Adolescent (13-18 years old) | Female | details |
3-Hydroxyglutaric acid (HMDB0000428) | Urine | 590 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Male | details |
Glutaric acid (HMDB0000661) | Urine | 96.81 umol/mmol creatinine | Abnormal | Adolescent (13-18 years old) | Female | details |
Glutaric acid (HMDB0000661) | Urine | 7870 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Male | details |
Glutaric aciduria II (231680 )
Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
---|---|---|---|---|---|---|
Decanoylcarnitine (HMDB0000651) | Blood | 0.72 uM | Abnormal | Adolescent (13-18 years old) | Male | details |
Decanoylcarnitine (HMDB0000651) | Blood | 1.09 uM | Abnormal | Adolescent (13-18 years old) | Male | details |
Hexanoylcarnitine (HMDB0000756) | Blood | 0.18 uM | Abnormal | Adolescent (13-18 years old) | Male | details |
Hexanoylcarnitine (HMDB0000756) | Blood | 0.31 uM | Abnormal | Adolescent (13-18 years old) | Male | details |
Octanoylcarnitine (HMDB0000791) | Blood | 0.37 uM | Abnormal | Adolescent (13-18 years old) | Male | details |
Octanoylcarnitine (HMDB0000791) | Blood | 0.59 uM | Abnormal | Adolescent (13-18 years old) | Male | details |
Butyrylcarnitine (HMDB0002013) | Blood | 0.38 uM | Abnormal | Adolescent (13-18 years old) | Male | details |
Tetradecanoylcarnitine (HMDB0005066) | Blood | 0.3 uM | Abnormal | Adolescent (13-18 years old) | Male | details |
Tetradecanoylcarnitine (HMDB0005066) | Blood | 0.92 uM | Abnormal | Adolescent (13-18 years old) | Male | details |
Linoleyl carnitine (HMDB0006469) | Blood | 2.35 uM | Abnormal | Infant (0-1 year old) | Male | details |
9-Hexadecenoylcarnitine (HMDB0013207) | Blood | 0.33 uM | Abnormal | Adolescent (13-18 years old) | Male | details |
9-Hexadecenoylcarnitine (HMDB0013207) | Blood | 0.9 uM | Abnormal | Adolescent (13-18 years old) | Male | details |
trans-2-Dodecenoylcarnitine (HMDB0013326) | Blood | 0.15 uM | Abnormal | Adolescent (13-18 years old) | Male | details |
trans-2-Dodecenoylcarnitine (HMDB0013326) | Blood | 0.22 uM | Abnormal | Adolescent (13-18 years old) | Male | details |
Octadecenoylcarnitine (HMDB0094687) | Blood | 1.02 uM | Abnormal | Adolescent (13-18 years old) | Male | details |
Octadecenoylcarnitine (HMDB0094687) | Blood | 2.6 uM | Abnormal | Adolescent (13-18 years old) | Male | details |
4-Hydroxybutyric acid (HMDB0000710) | Urine | 1.00 (0.00-2.00) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
4-Hydroxybutyric acid (HMDB0000710) | Urine | 3865.0 (130.00-7600.00) umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
2-Hydroxyglutarate (HMDB0059655) | Urine | 33.0 (20.0-46.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
2-Hydroxyglutarate (HMDB0059655) | Urine | 2175.0 (50.0-4300.0) umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
2-Methylbutyrylglycine (HMDB0000339) | Urine | 8.523-22.728 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Not Specified | details |
Isovalerylglycine (HMDB0000678) | Urine | 511.381-795.482 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Not Specified | details |
Isobutyrylglycine (HMDB0000730) | Urine | 31.155 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Not Specified | details |
Glutaric aciduria type III (231690 )
Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
---|---|---|---|---|---|---|
Glutaric acid (HMDB0000661) | Urine | 290-1460 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
Glutaryl-CoA dehydrogenase deficiency (GDHD)
Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
---|---|---|---|---|---|---|
3-Hydroxyglutaric acid (HMDB0000428) | Cerebrospinal Fluid (CSF) | 4450 uM | Abnormal | Not Available | Not Specified | details |
Glutaric acid (HMDB0000661) | Cerebrospinal Fluid (CSF) | 39.74 uM | Abnormal | Not Available | Not Specified | details |
17alpha-Estradiol (HMDB0000429) | Urine | 9.4 +/- 5.0 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
Glutathione synthetase deficiency (266130 )
Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
---|---|---|---|---|---|---|
Pyroglutamic acid (HMDB0000267) | Blood | 87.00 (13.00-161.00) uM | Abnormal | Adult (>18 years old) | Both | details |
L-Proline (HMDB0000162) | Blood | 650.00 (300.00-1000.00) uM | Abnormal | Children (1-13 years old) | Both | details |
Pyroglutamic acid (HMDB0000267) | Blood | 3.5 (3.00-4.00) uM | Abnormal | Children (1-13 years old) | Both | details |
Leukotriene B4 (HMDB0001085) | Cerebrospinal Fluid (CSF) | 0.000177 uM | Abnormal | Adult (>18 years old) | Male | details |
Leukotriene C4 (HMDB0001198) | Cerebrospinal Fluid (CSF) | 0.00001343 uM | Abnormal | Adult (>18 years old) | Male | details |
Pyroglutamic acid (HMDB0000267) | Urine | 137.6 - 4092.79 umol/mmol creatinine | Abnormal | Children (1 - 13 years old) | Both | details |
Glycerol intolerance syndrome
Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
---|---|---|---|---|---|---|
Phosphorus (HMDB0001315) | Blood | 2200.00 (1400.00-3000.00) uM | Abnormal | Adult (>18 years old) | Both | details |
Phosphorus (HMDB0001315) | Blood | 50250.00 (500.00-100000.00) uM | Abnormal | Children (1-13 years old) | Both | details |