L-2-HYDROXYGLUTARIC ACIDURIA - 3 AUSTRALIAN CASES

Excretion of L-2-hydroxyglutaric acid (L-2HG) was first reported in 19 80 (Duran et al 1980) in a Moroccan boy with mental and motor retardat ion, and in 1992 there was a further report of 8 patients (including t he original one) who had L-2HG and exhibited developmental delay, cere ballar signs and leukodystrophy (Barth et al 1992). We report three Au stralian patients with L-2-hydroxyglutaric aciduria whose clinical pic ture reinforces the emerging phenotype of this degenerative disorder o f unknown pathogenesis.