title: Subependymal mass lesions and peripheral polyneuropathy in adult-onset glutaric aciduria type I.
abstract: Glutaric aciduria type I (GA-I) is an autosomal recessive disease caused by a deficiency of the mitochondrial enzyme glutaryl CoA dehydrogenase (GCDH). This metabolic block causes increased urinary concentrations of glutaric and 3-hydroxyglutaric acids. The accumulation and excretion of glutarylcarnitine esters leads to secondary carnitine deficiency. GA-I has an incidence of 1:30,000. The clinical hallmark of GA-I is an acute encephalopathic crisis, with bilateral striatal necrosis presented by severe dystonic dyskinetic disorder. Most patients have their first symptoms during infancy, but some have a less severe form of the disease and some may even remain asymptomatic.
authors.affiliation: Rambam Health Care Campus, Haifa, Israel. m_herskovitz@rambam.health.gov.il
authors.forename: Moshe
authors.initials: M
authors.lastname: Herskovitz
authors.forename: Dorith
authors.initials: D
authors.lastname: Goldsher
authors.forename: Ben-Ami
authors.initials: BA
authors.lastname: Sela
authors.forename: Hanna
authors.initials: H
authors.lastname: Mandel
mesh_terms: D017668:Age of Onset; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis / Q000201:enzymology* / Q000473:pathology*; D001692:Biological Transport; D001928:Brain Diseases, Metabolic / Q000175:diagnosis / Q000201:enzymology* / Q000473:pathology*; D002331:Carnitine / Q000031:analogs & derivatives / Q000652:urine; D005977:Glutarates / Q000652:urine; D050770:Glutaryl-CoA Dehydrogenase / Q000172:deficiency / Q000378:metabolism*; D006801:Humans; D008297:Male; D008875:Middle Aged; D016896:Treatment Outcome
chemical_list: C108959:3-hydroxyglutaric acid; D005977:Glutarates; C053168:glutarylcarnitine; D050770:Glutaryl-CoA Dehydrogenase; D002331:Carnitine