Abstract
Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B(12) (cobalamin) metabolism. The recent cloning of the disease gene, MMACHC, has permitted genotype-phenotype correlation. 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.
Lingua originale | English |
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pagine (da-a) | 135-138 |
Numero di pagine | 4 |
Rivista | Pediatric Neurology |
Volume | 43 |
Stato di pubblicazione | Pubblicato - 2010 |
Keywords
- demyelinating neuropathy
- homocystinuria cblC type
- methylmalonic aciduria