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

Barbara Tavazzi, D Frattini, C Fusco

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

17 Citazioni (Scopus)

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 originaleEnglish
pagine (da-a)135-138
Numero di pagine4
RivistaPediatric Neurology
Volume43
Stato di pubblicazionePubblicato - 2010

Keywords

  • demyelinating neuropathy
  • homocystinuria cblC type
  • methylmalonic aciduria

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