Abstract Vitamin B12 (cobalamin, Cbl) is a nutrient essential to human health. Due to its
complex structure and dual cofactor forms, Cbl undergoes a complicated series of …

Circular RNAs (circRNA) represent a distinct class of covalently closed-loop RNA molecules,
which play diverse roles in regulating biological processes and disease states. The …

Isolated methylmalonic acidaemia (MMA) and propionic acidaemia (PA) are rare inherited
metabolic diseases. Six years ago, a detailed evaluation of the available evidence on …

Background Isolated methylmalonic acidemia/aciduria (MMA) is an ultra-rare, serious,
inherited metabolic disorder with significant morbidity and mortality. Exogenously delivered …

For this GeneReview, the term" isolated methylmalonic acidemia" refers to a group of inborn
errors of metabolism associated with elevated methylmalonic acid (MMA) concentration in …

Methylmalonic acidemia (MMA) is the most common organic acidemia in China. This study
aimed to characterise the genotypic and phenotypic variabilities, and the molecular …

Methylmalonic Acidemia (MMA) is a heterogenous group of inborn errors of metabolism
caused by a defect in the methylmalonyl‐CoA mutase (MMUT) enzyme or the synthesis and …

Mitochondria—the intracellular powerhouse in which nutrients are converted into energy in
the form of ATP or heat—are highly dynamic, double-membraned organelles that harness a …

Introduction Long‐term outcome is postulated to be different in isolated methylmalonic
aciduria caused by mutations in the MMAA gene (cblA type) compared with methylmalonyl …

Inherited disorders of B 12 metabolism produce a broad spectrum of manifestations, with
limited knowledge of the influence of age and the function of related genes. We report a …