Background The 'classic'organic acidaemias (OAs)(propionic, methylmalonic and isovaleric)
typically present in neonates or infants as acute metabolic decompensation with …

Therapeutic guidelines have been obtained from a restrospective review of 41 patients
affected with organic acidaemias, 16 patients with neonatal maple syrup urine disease …

Background Isovaleric aciduria (IVA), propionic aciduria (PA) and methylmalonic aciduria
(MMA) are inherited organic acidurias (OAs) in which impaired organic acid metabolism …

Background Despite its first description over 40 years ago, knowledge of the clinical course
of isovaleric acidemia (IVA), a disorder predisposing to severe acidotic episodes during …

Disease characteristics. The term" organic acidemia" or" organic aciduria"(OA) applies to a
group of disorders characterized by the excretion of non-amino organic acids in urine. Most …

Hyperammonemia occurs mainly in patients with branched-chain organic acidemias such as
propionic, methylmalonic, and isovaleric acidemias. Its pathophysiological process is mainly …

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

The Inborn Errors of Metabolism and Neurology Services of the King Faisal Specialist
Hospital and Research Centre (KFSH&RC) and Armed Forces Hospital have received more …

Ammonia, normally produced from catabolism of amino acids, is a deadly neurotoxin. As
such, the concentration of free ammonia in the blood is very tightly regulated and is …

The term hyperammonemia describes a clinical situation marked by increased plasma
ammonia concentration. It is generally due to decreased ammonia detoxification as urea …