Clinical, genetic and magnetic resonance findings in an Italian patient affected by L-2-hydroxyglutaric aciduria.
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.
Mazzei
Rosalucia
R
Institute of Neurological Sciences, National Research Council, Loc. Burga, 87050, Piano Lago di Mangone (CS), Italy. r.mazzei@isn.cnr.it
Ungaro
Carmine
C
Garreffa
Girolamo
G
Conforti
Francesca Luisa
FL
Mollo
Antonella
A
Sprovieri
Teresa
T
Servillo
Pasquale
P
Blasi
Vincenzo
V
Gallo
Olivier
O
Cerasa
Antonio
A
Lanza
Pier Luigi
PL
Quattrone
Aldo
A
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
D050560:Homogentisate 1,2-Dioxygenase