Browsing Diseases
Displaying diseases 161 - 170 of 660 in total
Combined malonic and methylmalonic aciduria (614265 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Methylmalonic acid (HMDB0000202) | Blood | 10-15.4 uM | Abnormal | Adult (>18 years old) | Both | details |
| Malonic acid (HMDB0000691) | Blood | 2.1-5.5 uM | Abnormal | Adult (>18 years old) | Both | details |
| Methylmalonic acid (HMDB0000202) | Urine | 29.200-104.500 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Malonic acid (HMDB0000691) | Urine | 2.900-17.900 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
Combined oxidative phosphorylation deficiency 10 (614702 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| L-Lactic acid (HMDB0000190) | Blood | 13000-17900 uM | Abnormal | Newborn (0-30 days old) | Both | details |
Combined oxidative phosphorylation deficiency 11 (614922 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| L-Lactic acid (HMDB0000190) | Blood | 3200 uM | Abnormal | Newborn (0-30 days old) | Male | details |
| L-Lactic acid (HMDB0000190) | Cerebrospinal Fluid (CSF) | 5900 uM | Abnormal | Newborn (0-30 days old) | Male | details |
Combined oxidative phosphorylation deficiency 12 (614924 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| L-Lactic acid (HMDB0000190) | Blood | 6500 uM | Abnormal | Infant (0-1 year old) | Male | details |
Combined oxidative phosphorylation deficiency 14 (614946 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| L-Lactic acid (HMDB0000190) | Blood | 4300 uM | Abnormal | Infant (0-1 year old) | Female | details |
| L-Lactic acid (HMDB0000190) | Cerebrospinal Fluid (CSF) | 7200 uM | Abnormal | Infant (0-1 year old) | Female | details |
Congenital Adrenal Hyperplasia, due to 17-Hydroxylase-Deficiency (202110 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Aldosterone (HMDB0000037) | Blood | 0.000011 uM | Abnormal | Adolescent (13-18 years old) | Female | details |
| Testosterone (HMDB0000234) | Blood | <0.000693 uM | Abnormal | Adolescent (13-18 years old) | Female | details |
| Estradiol (HMDB0000151) | Blood | <0.0000734 uM | Abnormal | Adolescent (13-18 years old) | Female | details |
| Cortisol (HMDB0000063) | Blood | 0.0806 uM | Abnormal | Adolescent (13-18 years old) | Female | details |
| Potassium (HMDB0000586) | Blood | 2800 uM | Abnormal | Adolescent (13-18 years old) | Female | details |
| Deoxycorticosterone (HMDB0000016) | Blood | 0.00118 uM | Abnormal | Adult (>18 years old) | Female | details |
| Estradiol (HMDB0000151) | Blood | 0.000055 uM | Abnormal | Adolescent (13-18 years old) | Female | details |
| Estradiol (HMDB0000151) | Blood | 0.000114 uM | Abnormal | Adult (>18 years old) | Female | details |
| Cortisol (HMDB0000063) | Blood | 0.0469 uM | Abnormal | Adult (>18 years old) | Female | details |
| Dehydroepiandrosterone sulfate (HMDB0001032) | Blood | 0.0621 uM | Abnormal | Adult (>18 years old) | Female | details |
| Dehydroepiandrosterone sulfate (HMDB0001032) | Blood | 0.104 uM | Abnormal | Adolescent (13-18 years old) | Female | details |
Congenital Adrenal Hyperplasia, due to 21-Hydroxylase-Deficiency (201910 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| 21-Deoxycortisol (HMDB0004030) | Blood | 0.048 (0.014 - 0.320) uM | Abnormal | Newborn (0-30 days old) | Not Specified | details |
| Androstenedione (HMDB0000053) | Blood | 0.517 uM | Abnormal | Infant (0-1 year old) | Both | details |
| 17-Hydroxyprogesterone (HMDB0000374) | Blood | 1.522 uM | Abnormal | Infant (0-1 year old) | Both | details |
| 16-a-Hydroxypregnenolone (HMDB0000315) | Urine | Not Quantified | Abnormal | Newborn (0-30 days old) | Not Available | details |
Congenital cataracts, hearing loss, and neurodegeneration (614482 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Copper (HMDB0000657) | Blood | 4.878-11.645 uM | Abnormal | Infant (0-1 year old) | Male | details |
Congenital chloride diarrhea (214700 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Chloride ion (HMDB0000492) | Blood | 69900 (53000-88000) uM | Abnormal | Children (1-13 years old) | Both | details |
| Potassium (HMDB0000586) | Blood | 1800-2800 uM | Abnormal | Infant (0-1 year old) | Both | details |
| Potassium (HMDB0000586) | Blood | 2900 (2500-4000) uM | Abnormal | Children (1-13 years old) | Both | details |
| Sodium (HMDB0000588) | Blood | 129000 (125000-132000) uM | Abnormal | Children (1-13 years old) | Both | details |
| Hydrogen carbonate (HMDB0000595) | Blood | 30000-43000 uM | Abnormal | Infant (0-1 year old) | Both | details |
| Aldosterone (HMDB0000037) | Blood | 0.000145-0.00499 uM | Abnormal | Infant (0-1 year old) | Both | details |
congenital disorder of glycosylation CDG-Ia (212065 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Uric acid (HMDB0000289) | Blood | 0.000420-0.000440 uM | Abnormal | Infant (0-1 year old) | Both | details |