High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria

► High resolution melting analysis (HRMA) represents a fast and efficient means to screen DNA for potential sequence changes that can then be identified by sequencing. ► HRMA correctly identified all previously reported mutations in the MMAA gene in a panel of 37 previously sequenced cblA patients. ► It identified 64 MMAA variants in 35 previously unsequenced cblA patients, including 10 novel variants. ► A single patient with a heterozygous MMAA variant was identified in a panel of 191 patients with methylmalonic aciduria of unknown cause.