Report - Report on the heterozygosis mutations of c.567dupT, p.(Ile190Tyrfs*13) of MMACHC gene in 1 Child patient with methylmalonic academia

Pak J Pharm Sci. 2016 May;29(3 Suppl):1109-11.

Abstract

This article reported 1 child patient with early-onset methylmalonic acidemia and proceeded gene detection for the child and his parents. The detecting results showed that there were respectively heterozygosis mutations of c.609G>A,p.(Trp203*) and c.567dupT,p.(Ile190Tyrfs*13) in the MMA CHC gene of child's parents, and all of the diseases were entailed to the child and caused the paroxysm of child. Consequently, the c.567dupT,p.(Ile190Tyrfs*13) was considered as a kind of new gene mutation. After being treated with vitamin B12 and levocamitine, the clinical symptoms and organic acid content of hematuresis of this child patient had taken a turn for the better.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / diagnosis
  • Amino Acid Metabolism, Inborn Errors / genetics*
  • Amino Acid Metabolism, Inborn Errors / therapy
  • Carrier Proteins / genetics*
  • DNA Mutational Analysis
  • Genetic Predisposition to Disease
  • Heredity
  • Heterozygote*
  • Humans
  • Infant
  • Male
  • Mutation*
  • Oxidoreductases
  • Pedigree
  • Phenotype

Substances

  • Carrier Proteins
  • MMACHC protein, human
  • Oxidoreductases

Supplementary concepts

  • Methylmalonic acidemia