eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | methylmalonic acidemia with homocystinuria |
| Comorbidity | C0270922|peripheral demyelinating neuropathy |
| Sentences | 1 |
| PubMedID- 20610126 | In a 1-year-old girl, compound heterozygous c.271dupa and c.616c>t mutations in mmachc were identified as causing an early onset methylmalonic aciduria and homocystinuria, cblc type, which was complicated by sensorimotor peripheral demyelinating neuropathy. |
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