eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | homocystinuria |
| Comorbidity | C0268583|methylmalonic aciduria |
| Sentences | 5 |
| PubMedID- 20211161 | Conclusion: methylmalonic aciduria with homocystinuria is due to deficiency of the enzyme, cobalamin reductase. |
| PubMedID- 26283149 | Mmachc was previously confirmed to be responsible for methylmalonic aciduria (mma) combined with homocystinuria, cblc type (cblc disease), a hereditary vitamin b12 metabolic disorder. |
| PubMedID- 22929452 | Purpose: to report the ocular complications of cobalamin-c type methylmalonic aciduria with homocystinuria (cblc) in a large consecutive series of patients. |
| PubMedID- 23568438 | Background: methylmalonic aciduria with homocystinuria, cblc defect, is the most frequent disorder of vitamin b12 metabolism. |
| PubMedID- 20652818 | Subsequent dna sequence analysis of the methylmalonic aciduria cblc with homocystinuria type c gene (mmach, nm_015506.2) revealed two heterozygous variants: c.276g > t; p.(glu92asp)/erroneous splicing and c.442_444delinsa; p.(val148metfsx33). |
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