Browsing Diseases
Displaying diseases 191 - 200 of 660 in total
Cytochrome C oxidase deficiency (220110 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Mannitol (HMDB0000765) | Blood | 1.63 (1.14-2.12) uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Lactic acid (HMDB0000190) | Cerebrospinal Fluid (CSF) | 1300.0 (500.0-2100.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Lactic acid (HMDB0000190) | Cerebrospinal Fluid (CSF) | 6850.0 (1700.0-12000) uM | Abnormal | Children (1-13 years old) | Both | details |
| L-Lactic acid (HMDB0000190) | Urine | 12.5 (0.00-25.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| L-Lactic acid (HMDB0000190) | Urine | 37550.0 (100.0-75000.0) umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
D, L-2-hydroxyglutaric aciduria (615182 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| D-2-Hydroxyglutaric acid (HMDB0000606) | Blood | 2.6(2.2-3.2) uM | Abnormal | Infant (0-1 year old) | Both | details |
| L-2-Hydroxyglutaric acid (HMDB0000694) | Blood | 2.0(1.1-3.0) uM | Abnormal | Infant (0-1 year old) | Both | details |
| D-2-Hydroxyglutaric acid (HMDB0000606) | Cerebrospinal Fluid (CSF) | 1.1(0.42-2.5) uM | Abnormal | Infant (0-1 year old) | Both | details |
| D-2-Hydroxyglutaric acid (HMDB0000606) | Urine | 496(228-750) umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Both | details |
| L-2-Hydroxyglutaric acid (HMDB0000694) | Urine | 32 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Female | details |
| L-2-Hydroxyglutaric acid (HMDB0000694) | Urine | 161(64-247) umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Both | details |
| 2-Hydroxyglutarate (HMDB0059655) | Urine | 373 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Male | details |
| D-2-Hydroxyglutaric acid (HMDB0000606) | Urine | 228 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Male | details |
| L-2-Hydroxyglutaric acid (HMDB0000694) | Urine | 145 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Male | details |
D-2-hydroxyglutaric aciduria (600721 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| D-2-Hydroxyglutaric acid (HMDB0000606) | Blood | 61.0 +/- 14.0 uM | Abnormal | Adult (>18 years old) | Both | details |
| 2-Hydroxyglutarate (HMDB0059655) | Blood | 0.6 (0.30-0.90) uM | Abnormal | Adult (>18 years old) | Both | details |
| 2-Hydroxyglutarate (HMDB0059655) | Blood | 61.0 +/- 14.0 uM | Abnormal | Adult (>18 years old) | Both | details |
| D-2-Hydroxyglutaric acid (HMDB0000606) | Blood | 217 uM | Abnormal | Infant (0-1 year old) | Male | details |
| D-2-Hydroxyglutaric acid (HMDB0000606) | Cerebrospinal Fluid (CSF) | 0.2 (0.1-0.30) uM | Abnormal | Adult (>18 years old) | Both | details |
| 2-Hydroxyglutarate (HMDB0059655) | Cerebrospinal Fluid (CSF) | 0.2 (0.1-0.30) uM | Abnormal | Adult (>18 years old) | Both | details |
| D-2-Hydroxyglutaric acid (HMDB0000606) | Cerebrospinal Fluid (CSF) | 61 uM | Abnormal | Infant (0-1 year old) | Male | details |
| D-2-Hydroxyglutaric acid (HMDB0000606) | Urine | 10.0 (3.0-17.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| 2-Hydroxyglutarate (HMDB0059655) | Urine | 10.0 (3.0-17.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Glycolic acid (HMDB0000115) | Urine | 6.667 umol/mmol creatinine | Abnormal | Children (1 - 13 years old) | Male | details |
| Glycolic acid (HMDB0000115) | Urine | 163.529 umol/mmol creatinine | Abnormal | Children (1 - 13 years old) | Male | details |
| Glycolic acid (HMDB0000115) | Urine | 341.924 umol/mmol creatinine | Abnormal | Children (1 - 13 years old) | Male | details |
| Oxoglutaric acid (HMDB0000208) | Urine | 26.667 umol/mmol creatinine | Abnormal | Children (1 - 13 years old) | Male | details |
| Oxoglutaric acid (HMDB0000208) | Urine | 46.432 umol/mmol creatinine | Abnormal | Children (1 - 13 years old) | Male | details |
| Oxoglutaric acid (HMDB0000208) | Urine | 193.466 umol/mmol creatinine | Abnormal | Children (1 - 13 years old) | Male | details |
| Succinic acid (HMDB0000254) | Urine | 4.787 umol/mmol creatinine | Abnormal | Children (1 - 13 years old) | Male | details |
| Succinic acid (HMDB0000254) | Urine | 6.667 umol/mmol creatinine | Abnormal | Children (1 - 13 years old) | Male | details |
| Succinic acid (HMDB0000254) | Urine | 86.168 umol/mmol creatinine | Abnormal | Children (1 - 13 years old) | Male | details |
| D-2-Hydroxyglutaric acid (HMDB0000606) | Urine | 360 umol/mmol creatinine | Abnormal | Children (1 - 13 years old) | Male | details |
| D-2-Hydroxyglutaric acid (HMDB0000606) | Urine | 915.997 umol/mmol creatinine | Abnormal | Children (1 - 13 years old) | Male | details |
| D-2-Hydroxyglutaric acid (HMDB0000606) | Urine | 1511.395 umol/mmol creatinine | Abnormal | Children (1 - 13 years old) | Male | details |
| Succinic acid (HMDB0000254) | Urine | 749-784 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
| D-2-Hydroxyglutaric acid (HMDB0000606) | Urine | 4067 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
| L-2-Hydroxyglutaric acid (HMDB0000694) | Urine | 76-83 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
| 2-Hydroxyglutarate (HMDB0059655) | Urine | 685 - 786 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
D-Bifunctional protein deficiency (261515 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Hexacosanoic acid (HMDB0002356) | Blood | 6.806 uM | Abnormal | Infant (0-1 year old) | Male | details |
| Pipecolic acid (HMDB0000070) | Blood | 2.3 uM | Abnormal | Infant (0-1 year old) | Male | details |
| Trihydroxycoprostanoic acid (HMDB0002163) | Blood | 8.8 uM | Abnormal | Infant (0-1 year old) | Male | details |
| Coprocholic acid (HMDB0000601) | Blood | 13.4 uM | Abnormal | Infant (0-1 year old) | Not Specified | details |
| Hexacosanoic acid (HMDB0002356) | Blood | 5.4 uM | Abnormal | Infant (0-1 year old) | Not Specified | details |
| 3beta,7alpha-Dihydroxy-5-cholestenoate (HMDB0012454) | Blood | 25.4 uM | Abnormal | Infant (0-1 year old) | Not Specified | details |
D-Glyceric acidemia (605899 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Glycine (HMDB0000123) | Blood | 1090.0 (780.0-1400.0) uM | Abnormal | Newborn (0-30 days old) | Both | details |
| Glycine (HMDB0000123) | Blood | 486.0 (232.0-740.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| Glycine (HMDB0000123) | Blood | 880-1070 uM | Abnormal | Children (1 - 13 years old) | Male | details |
| Glycine (HMDB0000123) | Urine | 4753-6114 umol/mmol creatinine | Abnormal | Children (1 - 13 years old) | Male | details |
| Glyceric acid (HMDB0000139) | Urine | 2900-5220 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
D-Glyceric acidura
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Glycine (HMDB0000123) | Blood | 1000.0 (800.0-1200.0) uM | Abnormal | Children (1-13 years old) | Both | details |
| Glyceric acid (HMDB0000139) | Blood | 186-315 uM | Abnormal | Children (1-13 years old) | Both | details |
| Glycine (HMDB0000123) | Cerebrospinal Fluid (CSF) | 300-1500 uM | Abnormal | Children (1-13 years old) | Male | details |
| Glyceric acid (HMDB0000139) | Urine | 15000.0 (10000.0-20000.0) umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
D-Lactic Acidosis (245450 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| L-Lactic acid (HMDB0000190) | Blood | 1700 uM | Abnormal | Children (1-13 years old) | Male | details |
| Uric acid (HMDB0000289) | Blood | 350-770 uM | Abnormal | Children (1-13 years old) | Male | details |
| D-Lactic acid (HMDB0001311) | Blood | 600 uM | Abnormal | Children (1-13 years old) | Male | details |
| L-Lactic acid (HMDB0000190) | Cerebrospinal Fluid (CSF) | 1500 uM | Abnormal | Children (1-13 years old) | Male | details |
| D-Lactic acid (HMDB0001311) | Cerebrospinal Fluid (CSF) | 600 uM | Abnormal | Children (1-13 years old) | Male | details |
| D-Lactic acid (HMDB0001311) | Urine | 466.667-1933.333 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Male | details |
| 3-Aminoisobutanoic acid (HMDB0003911) | Urine | 248.732 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Male | details |
D-Lactic Acidosis and Short Bowel Syndrome
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| D-Lactic acid (HMDB0001311) | Blood | 3100-20200 uM | Abnormal | Adult (>18 years old) | Both | details |
| D-Lactic acid (HMDB0001311) | Blood | 4000-10000 uM | Abnormal | Children (1-13 years old) | Male | details |
| D-Lactic acid (HMDB0001311) | Blood | 6700 uM | Abnormal | Adolescent (13-18 years old) | Male | details |
| D-Lactic acid (HMDB0001311) | Urine | 6783.6 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Male | details |
| D-Lactic acid (HMDB0001311) | Urine | 2190-20000 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome (220500 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Citric acid (HMDB0000094) | Urine | 998 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Female | details |
| L-Lactic acid (HMDB0000190) | Urine | 352 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Female | details |
| Oxoglutaric acid (HMDB0000208) | Urine | 1374 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Female | details |
| 4-Hydroxyphenylpyruvic acid (HMDB0000707) | Urine | 12 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Female | details |
| Malic acid (HMDB0000156) | Urine | 110 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Female | details |
| 2-Hydroxyglutarate (HMDB0059655) | Urine | 62 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Female | details |
Degenerative disc disease
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Hypoxanthine (HMDB0000157) | Cerebrospinal Fluid (CSF) | 2.50 (2.00-3.00) uM | Abnormal | Adult (>18 years old) | Both | details |
| Inosine (HMDB0000195) | Cerebrospinal Fluid (CSF) | 0.70 (0.60-0.80) uM | Abnormal | Adult (>18 years old) | Both | details |
| Thymidine (HMDB0000273) | Cerebrospinal Fluid (CSF) | 0.06 (0.0-0.120 uM | Abnormal | Adult (>18 years old) | Both | details |
| Uric acid (HMDB0000289) | Cerebrospinal Fluid (CSF) | 24.0 (20.1-27.9) uM | Abnormal | Adult (>18 years old) | Both | details |
| Uridine (HMDB0000296) | Cerebrospinal Fluid (CSF) | 2.30 (1.90-2.70) uM | Abnormal | Adult (>18 years old) | Both | details |
| Xanthine (HMDB0000292) | Cerebrospinal Fluid (CSF) | 2.30 (2.10-2.50) uM | Abnormal | Adult (>18 years old) | Both | details |