D-2-hydroxyglutaric aciduria in association with spondyloenchondromatosis.

D-2-hydroxyglutaric aciduria is a rare metabolic disorder, first reported in 1980, and does not yet have a clinically specific presentation pattern nor any specific treatment regime. We report a girl born with this uncommon metabolic disorder, who, at the age of 12 months, was also found to have a severe crippling form of skeletal dysplasia, spondyloenchondromatosis.