Rapid screening of MMACHC gene mutations by high‐resolution melting curve analysis

摘要

Cobalamin (cbl) C is a treatable rare hereditary disorder of cbl metabolism with autosomal recessive inheritance. It is the most common organic acidemia, manifested as methylmalonic academia combined with homocysteinemia. Early screening and diagnosis are important. The mutation spectrum of the gene causing cblC varies among populations. The mutation spectrum in Chinese population is notably different from that in other populations.