title: N-carbamylglutamate in emergency management of hyperammonemia in neonatal acute onset propionic and methylmalonic aciduria.
abstract: In propionic aciduria and methylmalonic aciduria, hyperammonemia as a symptom of metabolic decompensation is one of the major clinical problems. Hyperammonemia is a true neonatal emergency with high mortality and neurological complications in most survivors. It requires a rapid and vigorous treatment in order to normalize the ammonia concentration as fast as possible. We report on two full-term neonates, one with propionic aciduria and the other with methylmalonic aciduria, whose plasma ammonia concentrations responded dramatically to oral N-carbamylglutamate. N-carbamylglutamate, added to the classic treatment, quickly normalized plasma ammonia levels in both patients and avoided the need of hemodialysis or peritoneal dialysis. A particularly sudden fall of ammonia was obtained in one patient through beginning N-carbamylglutamate treatment precociously.
authors.affiliation: Neonatal Intensive Care Unit, Department of Critical Care Medicine, A. Meyer University Children's Hospital, IT-50134 Florence, Italy. l.filippi@meyer.it
authors.forename: Luca
authors.initials: L
authors.lastname: Filippi
authors.forename: Elena
authors.initials: E
authors.lastname: Gozzini
authors.forename: Patrizio
authors.initials: P
authors.lastname: Fiorini
authors.forename: Sabrina
authors.initials: S
authors.lastname: Malvagia
authors.forename: Giancarlo
authors.initials: G
authors.lastname: la Marca
authors.forename: Maria Alice
authors.initials: MA
authors.lastname: Donati
mesh_terms: D000208:Acute Disease; D000592:Amino Acid Metabolism, Inborn Errors / Q000188:drug therapy*; D000641:Ammonia / Q000097:blood; D004632:Emergency Medical Services / Q000379:methods; D005260:Female; D005971:Glutamates / Q000627:therapeutic use*; D006801:Humans; D022124:Hyperammonemia / Q000097:blood / Q000150:complications / Q000151:congenital / Q000188:drug therapy*; D007231:Infant, Newborn; D008297:Male; D008764:Methylmalonic Acid / Q000097:blood / Q000652:urine; D056693:Propionic Acidemia / Q000097:blood / Q000150:complications / Q000188:drug therapy*; D014806:Vitamin B 12 Deficiency / Q000150:complications / Q000188:drug therapy
chemical_list: D005971:Glutamates; C006895:N-carbamylglutamate; D000641:Ammonia; D008764:Methylmalonic Acid