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

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.