title: Emergency treatment in glutaryl-CoA dehydrogenase deficiency.
abstract: The history of glutaryl-CoA dehydrogenase deficiency is determined by acute encephalopathic crises that are precipitated by common febrile diseases, vaccinations or surgical interventions during infancy and early childhood. Such crises result in an irreversible destruction of the basal ganglia (in particular of the putamina), and consequently dystonia, dyskinesia and choreoathetosis. Secondary complications include feeding and speech problems, failure to thrive, recurrent aspiration, immobilization, severe motor deficits and early death. It is generally accepted that maintenance treatment based on dietary lysine or protein restriction and supplementation with carnitine (and riboflavin) is insufficient to prevent acute crises during intercurrent illnesses or conditions that enhance catabolic state. Consequently, outpatient and inpatient emergency therapies have been implemented. The present review describes a recommended approach to emergency therapy for this disease.
authors.affiliation: University Children's Hospital, Department of General Pediatrics, Division of Metabolic and Endocrine Diseases, D-69120 Heidelberg, Germany.
authors.forename: S
authors.initials: S
authors.lastname: Kölker
authors.forename: C R
authors.initials: CR
authors.lastname: Greenberg
authors.forename: M
authors.initials: M
authors.lastname: Lindner
authors.forename: E
authors.initials: E
authors.lastname: Müller
authors.forename: E R
authors.initials: ER
authors.lastname: Naughten
authors.forename: G F
authors.initials: GF
authors.lastname: Hoffmann
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000628:therapy*; D001480:Basal Ganglia Diseases / Q000209:etiology / Q000628:therapy; D004632:Emergency Medical Services; D050770:Glutaryl-CoA Dehydrogenase; D006801:Humans; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000172:deficiency*
chemical_list: D044925:Oxidoreductases Acting on CH-CH Group Donors; D050770:Glutaryl-CoA Dehydrogenase