Clinical, genetic and magnetic resonance findings in an Italian patient affected by L-2-hydroxyglutaric aciduria
- نوع فایل : کتاب
- زبان : انگلیسی
- مؤلف : Rosalucia Mazzei • Carmine Ungaro • Girolamo Garreffa • Francesca Luisa Conforti • Antonella Mollo • Teresa Sprovieri • Pasquale Servillo • Vincenzo
- چاپ و سال / کشور: 2010
Description
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.
Neurol Sci (2011) 32:95–99 DOI 10.1007/s10072-010-0416-0 Received: 19 February 2009 / Accepted: 2 September 2010 / Published online: 22 September 2010
