OBJECTIVETo identify the mutation of the methylmalonic aciduria (cobalamin deficiency) CblC type, with homocystinuria (MMACHC) gene in a pedigree with methylmalonic aciduria.

METHODSThe MMACHC gene mutation was detected using polymerase chain reaction (PCR) and DNA sequencing. The MMACHC gene of 50 healthy people was also sequenced as control.

RESULTSA new mutation of 146_154 del CCTTCCTGG was found in the patient and his father, and was absent in the controls.

CONCLUSIONA new mutation (146_154 del CCTTCCTGG) in the MMACHC gene was detected in a Chinese family with methylmalonic aciduria.

Amino Acid Metabolism, Inborn Errors ; genetics ; metabolism ; Amino Acid Sequence ; Animals ; Base Sequence ; Carrier Proteins ; chemistry ; genetics ; Case-Control Studies ; Child, Preschool ; DNA Mutational Analysis ; Exons ; genetics ; Fathers ; Female ; Humans ; Male ; Methylmalonic Acid ; metabolism ; Molecular Sequence Data ; Mutation ; Pedigree ; Polymerase Chain Reaction ; Pregnancy ; Protein Structure, Secondary