Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy.

نویسندگان

  • Daniele Frattini
  • Carlo Fusco
  • Valentina Ucchino
  • Barbara Tavazzi
  • Elvio Della Giustina
چکیده

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.

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منابع مشابه

CblC Type Methylmalonic Aciduria with a Novel Homozygous Mutation: A Case Report

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Whole Exome Sequencing Identifies an Adult-onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-syndromic Bull’s Eye Maculopathy

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Resolution of cor pulmonale after medical management in a patient with cblC-type methylmalonic aciduria and homocystinuria: a case report

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Genetic analysis of four cases of methylmalonic aciduria and homocystinuria, cblC type#.

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عنوان ژورنال:
  • Pediatric neurology

دوره 43 2  شماره 

صفحات  -

تاریخ انتشار 2010