title: 3-Hydroxy-3-methylglutaryl coenzyme a lyase deficiency with reversible white matter changes after treatment.
abstract: We report the case of an 8-month-old infant with 3-hydroxy-3-methylglutaryl coenzyme A deficiency (OMIM 246450), an inborn error of leucine catabolism and ketogenesis, who presented with nonketotic hypoglycemia and seizures. He demonstrated reversible white matter changes on serial brain magnetic resonance imaging, together with clinical normalization, after initiation of a leucine-restricted diet.
authors.affiliation: 1st Department of Pediatrics, Aristotle University, Thessaloniki, Greece. jeff@med.auth.gr
authors.forename: Dimitrios I
authors.initials: DI
authors.lastname: Zafeiriou
authors.forename: Euthymia
authors.initials: E
authors.lastname: Vargiami
authors.forename: Ertan
authors.initials: E
authors.lastname: Mayapetek
authors.forename: Persephone
authors.initials: P
authors.lastname: Augoustidou-Savvopoulou
authors.forename: Grant A
authors.initials: GA
authors.lastname: Mitchell
mesh_terms: D000595:Amino Acid Sequence; D001921:Brain / Q000378:metabolism / Q000473:pathology*; D020739:Brain Diseases, Metabolic, Inborn / Q000235:genetics / Q000378:metabolism* / Q000628:therapy; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008969:Molecular Sequence Data; D007652:Oxo-Acid-Lyases / Q000172:deficiency* / Q000235:genetics; D017354:Point Mutation
chemical_list: D007652:Oxo-Acid-Lyases; C021410:3-hydroxy-3-methylglutaryl-coenzyme A lyase