Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia.

ABSTRACT: Defects in the human gene encoding methylmalonyl-CoA mutase enzyme (MCM) give rise to a rare autosomal recessive inherited disorder of propionate metabolism termed mut methylmalonic acidemia (MMA). Patients with mut MMA have been divided into two subgroups: mut⁰ with complete loss of MCM activity and mut^- with residual activity in the presence of adenosylcobalamin (AdoCbl). The disease typically presents in the first weeks or months of life and is clinically characterized by recurrent vomiting, metabolic acidosis, hyperammonemia, lethargy, poor feeding, failure to thrive and neurological deficit. To better elucidate the spectrum of mutations causing mut MMA in Saudi patients, we screened a cohort of 60 Saudi patients affected by either forms of the disease for mutatio

SUBMITTER: Imtiaz F 

PROVIDER: S-EPMC5059185 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature