title: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an adult with leukoencephalopathy.
abstract: 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency is a disorder of leucine metabolism that usually presents with recurrent episodes of life-threatening hypoglycemia during early childhood. We report on a 36-year-old woman with seizures, recurrent metabolic disturbances, and severe leukoencephalopathy. The diagnosis was made by analysis of amino acids in urine and serum and was confirmed by demonstration of the deficient enzyme in cultured skin fibroblasts. The patient improved clinically on oral L-carnitine substitution. This treatable condition can remain unrecognized in adults and should be considered a potential cause of leukoencephalopathy.
authors.affiliation: Department of General Neurology, Hertie Institute for Clinical Brain Research, Tübingen, Germany. felix.bischof@uni-tuebingen.de
authors.forename: Felix
authors.initials: F
authors.lastname: Bischof
authors.forename: Thomas
authors.initials: T
authors.lastname: Nägele
authors.forename: Ronald J A
authors.initials: RJ
authors.lastname: Wanders
authors.forename: Friedrich K
authors.initials: FK
authors.lastname: Trefz
authors.forename: Arthur
authors.initials: A
authors.lastname: Melms
mesh_terms: D000328:Adult; D001927:Brain Diseases / Q000188:drug therapy / Q000201:enzymology* / Q000473:pathology / Q000503:physiopathology; D002331:Carnitine / Q000097:blood / Q000627:therapeutic use; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005977:Glutarates / Q000652:urine; D006801:Humans; D007003:Hypoglycemia / Q000097:blood / Q000188:drug therapy / Q000473:pathology / Q000652:urine; D007962:Leukocytes / Q000201:enzymology* / Q000473:pathology; D008279:Magnetic Resonance Imaging / Q000379:methods; D013058:Mass Spectrometry / Q000379:methods; D010088:Oxidoreductases / Q000652:urine; D007652:Oxo-Acid-Lyases / Q000172:deficiency* / Q000235:genetics
chemical_list: D005977:Glutarates; D010088:Oxidoreductases; D007652:Oxo-Acid-Lyases; C021410:3-hydroxy-3-methylglutaryl-coenzyme A lyase; D002331:Carnitine