title: Use of carglumic acid in the treatment of hyperammonaemia during metabolic decompensation of patients with propionic acidaemia.
abstract: Propionic acidaemia (PA) results from propionyl-CoA carboxylase deficiency. During metabolic decompensation, the accumulation of propionyl-CoA causes secondary hyperammonaemia through N-acetylglutamate synthetase inactivation. Carglumic acid, a structural analogue of N-acetylglutamate, was given to patients with PA (n=3) during episodes of metabolic decompensation (n=8; age range: birth to 4years), in addition to high energy/low protein intake and carnitine. Plasma ammonia concentrations normalised within 6-19h. Carglumic acid was well tolerated with no side effects noted.
authors.affiliation: Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Australia.
authors.forename: M
authors.initials: M
authors.lastname: Abacan
authors.forename: A
authors.initials: A
authors.lastname: Boneh
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors; D000641:Ammonia / Q000097:blood; D002331:Carnitine / Q000097:blood; D002675:Child, Preschool; D005260:Female; D005971:Glutamates / Q000008:administration & dosage* / Q000009:adverse effects; D006801:Humans; D022124:Hyperammonemia / Q000150:complications / Q000188:drug therapy* / Q000473:pathology; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D043586:Methylmalonyl-CoA Decarboxylase / Q000235:genetics* / Q000378:metabolism; D056693:Propionic Acidemia / Q000150:complications / Q000188:drug therapy* / Q000473:pathology
chemical_list: D005971:Glutamates; C528449:carglumic acid; D000641:Ammonia; D043586:Methylmalonyl-CoA Decarboxylase; D002331:Carnitine
keywords: Carglumic acid; Hyperammonaemia; Propionic acidaemia