title: Clinical, genetic and magnetic resonance findings in an Italian patient affected by L-2-hydroxyglutaric aciduria.
abstract: L-2-Hydroxyglutaric aciduria (L-2-HGA) is a neurometabolic disease characterized by the presence of elevated levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine. Clinical features in this inherited condition consist of mental deterioration, ataxia and motor deficits with pyramidal and extrapyramidal symptoms and signs. L-2-HGA is caused by mutations in the L-2-HGDH gene which most probably encodes for a L-2-hydroxyglutarate dehydrogenase, a putative mitochondrial protein converting L-2-hydroxyglutarate to alphaketoglutarate. Here, we report a pathogenic nonsense mutation in the L-2-HGDH gene found for the first time in an Italian patient affected by L-2-HGA, reinforcing the previously described phenotype of this rare metabolic disease and confirming the data indicating that mutations in the L-2-HGDH gene cause L-2-HGA.
authors.affiliation: Institute of Neurological Sciences, National Research Council, Loc. Burga, 87050, Piano Lago di Mangone (CS), Italy. r.mazzei@isn.cnr.it
authors.forename: Rosalucia
authors.initials: R
authors.lastname: Mazzei
authors.forename: Carmine
authors.initials: C
authors.lastname: Ungaro
authors.forename: Girolamo
authors.initials: G
authors.lastname: Garreffa
authors.forename: Francesca Luisa
authors.initials: FL
authors.lastname: Conforti
authors.forename: Antonella
authors.initials: A
authors.lastname: Mollo
authors.forename: Teresa
authors.initials: T
authors.lastname: Sprovieri
authors.forename: Pasquale
authors.initials: P
authors.lastname: Servillo
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Blasi
authors.forename: Olivier
authors.initials: O
authors.lastname: Gallo
authors.forename: Antonio
authors.initials: A
authors.lastname: Cerasa
authors.forename: Pier Luigi
authors.initials: PL
authors.lastname: Lanza
authors.forename: Aldo
authors.initials: A
authors.lastname: Quattrone
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology; D020739:Brain Diseases, Metabolic, Inborn / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D004252:DNA Mutational Analysis; D056324:Diffusion Tensor Imaging; D050560:Homogentisate 1,2-Dioxygenase / Q000235:genetics; D006801:Humans; D007558:Italy; D008297:Male
chemical_list: D050560:Homogentisate 1,2-Dioxygenase