Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia

ABSTRACT:

Background/aim

Isolated methylmalonic acidemia (MMA) is caused by complete or partial deficiency of the enzyme methylmalonyl- CoA mutase (mut0 or mut– enzymatic subtype), a defect of its cofactor adenosyl-cobalamin (cblA, cblB, or cblD-MMA), or deficiency of the enzyme methylmalonyl-CoA epimerase. While onset of the disease ranges from the neonatal period to adulthood, most cases present with lethargy, vomiting and ketoacidosis in the early infancy. Major secondary complications are; growth failure, developmental delay, interstitial nephritis with progressive renal failure, basal ganglia injury and cardiomyopathy. We aimed to demonstrate clinical and molecular findings based on long-term follow up in our patient cohort.

Materials and methods

The study includes 37 Turkish pat

SUBMITTER: Seker Yılmaz B 

PROVIDER: S-EPMC8283478 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature