Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3086188 | Pediatric Neurology | 2010 | 4 Pages |
Abstract
Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (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.
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Authors
Daniele Frattini, Carlo Fusco, Valentina Ucchino, Barbara Tavazzi, Elvio Della Giustina,