Organic acidurias (OADs) comprise a biochemically defined group of inherited metabolic
diseases. Increasing awareness, reliable diagnostic work‐up, newborn screening programs …

This review focuses on the pathophysiology of organic acidurias (OADs), in particular, OADs
caused by deficient amino acid metabolism. OADs are termed classical if patients present …

Organic acidurias (synonym, organic acid disorders, OADs) are a heterogenous group of
inherited metabolic diseases delineated with the implementation of gas …

Organic acidurias or organic acidemias constitute a group of inherited disorders caused by
deficient activity of specific enzymes of amino acids, carbohydrates or lipids catabolism …

Organic acidurias represent a group of inherited disorders resulting from deficient activity of
specific enzymes of the catabolism of amino acids, carbohydrates or lipids, leading to tissue …

Organic acidurias (OADs) are inherited neurometabolic diseases largely caused by
deficiencies in enzymes involved in amino acid degradation, which result in accumulation of …

Organic acidurias (OADs) are inherited disorders of amino acid metabolism biochemically
characterized by accumulation of short-chain carboxylic acids in tissues and biological fluids …

Organic acidurias are an important class of inherited metabolic disorders arising due to
defect in intermediary metabolic pathways of carbohydrate, amino acids and fatty acid …

The occurrence of 3-methylglutaconic aciduria (3-MGA) is a well understood phenomenon
in leucine oxidation and ketogenesis disorders (primary 3-MGAs). In contrast, its genesis in …

Organic acidurias, such as glutaric aciduria type 1 (GA1), methylmalonic (MMA), and
propionic aciduria (PA) are a prominent group of inherited metabolic diseases involving …