Methylmalonic acidemia & propionic acidemia (MMA/PA)

Methylmalonic acidemia (MMA) and propionic acidemia (PA) are rare, autosomal recessive, multisystemic inborn errors of branched chain amino acid metabolism which cause significant morbidity and mortality in infancy and childhood, and, for survivors, significant debilitating end-organ damage into adulthood.

Organic acid disorders (OADs)

Inborn errors of metabolism (IEM) affecting enzymes and/or transport proteins required for catabolism of amino acids (AAs), lipids, or carbohydrates lead to pathologic buildup of upstream substrates/metabolites resulting in the clinical manifestations of organic acid disorders (OADs), also known as organic acidemias or acidurias.