Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria

Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.

Also known as: MC-HGA, metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria, metaphyseal enchondrodysplasia with 2-hydroxyglutaric aciduria, metaphyseal enchondromatosis with D-2-hydroxyglutaric aciduria, spondyloenchondromatosis with D-2-hydroxyglutaric aciduria

0 clinical trials for this condition and its sub-types, 0 tagged with Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria itself.