Browsing Diseases
Displaying diseases 331 - 340 of 660 in total
Hyperlysinemia I, familial (238700 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| L-Lysine (HMDB0000182) | Blood | 1208-1472 uM | Abnormal | Children (1-13 years old) | Both | details |
| Pipecolic acid (HMDB0000070) | Cerebrospinal Fluid (CSF) | 24-33 uM | Abnormal | Children (1-13 years old) | Both | details |
| L-Lysine (HMDB0000182) | Urine | 1384-1742 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| Ornithine (HMDB0000214) | Urine | 26-63 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| L-Arginine (HMDB0000517) | Urine | 120-221 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| Homocitrulline (HMDB0000679) | Urine | 63-83 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
Hyperlysinuria (247950 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| L-Lysine (HMDB0000182) | Urine | 1413.757 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Female | details |
| L-Lysine (HMDB0000182) | Urine | 2050-18736 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| L-Cystine (HMDB0000192) | Urine | 908-5585 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Ornithine (HMDB0000214) | Urine | 190-9883 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| L-Arginine (HMDB0000517) | Urine | 54-8426 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
Hypermanganesemia with dystonia 1 (613280 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Manganese (HMDB0001333) | Blood | 3.285 uM | Abnormal | Children (1-13 years old) | Female | details |
| Manganese (HMDB0001333) | Blood | 1.511-14.973 uM | Abnormal | Children (1-13 years old) | Male | details |
| Manganese (HMDB0001333) | Blood | 3.48 uM | Abnormal | Children (1-13 years old) | Male | details |
Hypermanganesemia with dystonia 2 (617013 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Manganese (HMDB0001333) | Blood | 0.963-3.830 uM | Abnormal | Children (1-13 years old) | Both | details |
Hypermethioninemia (613752 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| L-Tyrosine (HMDB0000158) | Blood | 108-146 uM | Abnormal | Children (1-13 years old) | Female | details |
| L-Tyrosine (HMDB0000158) | Blood | 48-95 uM | Abnormal | Children (1-13 years old) | Female | details |
| L-Methionine (HMDB0000696) | Blood | 20-273 uM | Abnormal | Newborn (0-30 days old) | Both | details |
| L-Methionine (HMDB0000696) | Blood | 230-1000 uM | Abnormal | Children (1-13 years old) | Female | details |
| L-Methionine (HMDB0000696) | Blood | 37-400 uM | Abnormal | Children (1-13 years old) | Female | details |
| Betaine (HMDB0000043) | Blood | 211 uM | Abnormal | Children (1-13 years old) | Male | details |
| Creatine (HMDB0000064) | Blood | 528 +/- 42 uM | Abnormal | Children (1-13 years old) | Male | details |
| L-Cystathionine (HMDB0000099) | Blood | 0.552 uM | Abnormal | Children (1-13 years old) | Male | details |
| L-Methionine (HMDB0000696) | Blood | 477-784 uM | Abnormal | Children (1-13 years old) | Male | details |
Hyperornithinemia with Gyrate Atrophy (258870 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Ornithine (HMDB0000214) | Blood | 1066(798-1321) uM | Abnormal | Adult (>18 years old) | Both | details |
| Ornithine (HMDB0000214) | Cerebrospinal Fluid (CSF) | 288(240-314) uM | Abnormal | Adult (>18 years old) | Both | details |
Hyperornithinemia-hyperammonemia-homocitrullinuria (238970 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Orotic acid (HMDB0000226) | Urine | 59-282 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
Hyperoxalemia
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Ascorbic acid (HMDB0000044) | Blood | 39.0 +/- 92.7 uM | Abnormal | Adult (>18 years old) | Both | details |
| Ascorbic acid (HMDB0000044) | Blood | 6.5 +/- 18.6 uM | Abnormal | Adult (>18 years old) | Both | details |
| Citric acid (HMDB0000094) | Blood | 141.3 +/- 54.7 uM | Abnormal | Adult (>18 years old) | Both | details |
| Citric acid (HMDB0000094) | Blood | 117.6 +/- 37.2 uM | Abnormal | Adult (>18 years old) | Both | details |
| Creatinine (HMDB0000562) | Blood | 40.3 +/- 14.5 uM | Abnormal | Adult (>18 years old) | Both | details |
Hyperphosphatasia (239000 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Calcium (HMDB0000464) | Blood | 2120.864 uM | Abnormal | Children (1-13 years old) | Female | details |
| Phosphate (HMDB0001429) | Blood | 315.885 uM | Abnormal | Children (1-13 years old) | Female | details |
| 25-Hydroxyvitamin D2 (HMDB0001438) | Blood | 24233.741 uM | Abnormal | Children (1-13 years old) | Female | details |
Hyperpipecolatemia
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Pipecolic acid (HMDB0000070) | Cerebrospinal Fluid (CSF) | 1-2 uM | Abnormal | Children (1-13 years old) | Male | details |
| Pipecolic acid (HMDB0000070) | Urine | 4.522 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Male | details |