Cobalamin C defect: a patient of late-onset type with homozygous p. R132*mutation

KILIÇ M., ÖZGÜL R. K., DURSUN A., TOKATLI A., Kalkanoglu-Sivri H. S., Anlar B., ...More

TURKISH JOURNAL OF PEDIATRICS, vol.55, no.6, pp.633-636, 2013 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 55 Issue: 6
  • Publication Date: 2013
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.633-636
  • Hacettepe University Affiliated: Yes


Methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, is the most frequent inborn error of vitamin B-12 metabolism. The clinical phenotype includes systemic symptoms and neurological decompensation. Affected patients can be divided into two broad groups, as early-onset and late-onset. We present a Turkish patient who had neurological impairment at the age of four years as presented with late-onset cblC defect. Homozygous c. 394C>T; p.R132* mutation in the MMACHC gene was detected. The patient was treated with hydroxocobalamin, betaine and folic acid combination with good clinical and biochemical response.