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. © 2010 Springer-Verlag.