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EnglishMethylmalonic 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.
| Autori: | |
| Titolo: | Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy. |
| Data di pubblicazione: | 2010 |
| 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: | Inglese |
| Rivista: | |
| Citazione: | Frattini, D., Fusco, C., Tavazzi, B., Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy., <<PEDIATRIC NEUROLOGY>>, 2010; 43 (Agosto): 135-138 [http://hdl.handle.net/10807/5321] |
| Appare nelle tipologie: | Articolo in rivista, Nota a sentenza |
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