Branched-chain organic acidurias/acidaemias

Abstract

Branched-chain organic acidurias or organic acidaemias are a group of disorders that result from an abnormality of specific enzymes involving the catabolism of branched-chain amino acids (BCAAs). Collectively, the most commonly encountered are maple syrup urine disease (MSUD), isovaleric aciduria (IVA), propionic aciduria (PA) and methyl malonic aciduria (MMA). They can present clinically as a severe neonatal-onset form of metabolic distress, an acute and intermittent late-onset form, or a chronic progressive form presenting as hypotonia, failure to thrive, and developmental delay. Other rare disorders involving leucine, isoleucine, and valine catabolism are 3-methylcrotonyl glycinuria, 3-methylglutaconic (3-MGC) aciduria, short-/branched-chain acyl-CoA dehydrogenase deficiency, 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, isobutyryl-CoA dehydrogenase deficiency, 3-hydroxyisobutyric aciduria, and malonic aciduria.