D-2-HYDROXYGLUTARIC ACIDURIA IN A NEWBORN WITH NEUROLOGICAL ABNORMALITIES - A NEW NEUROMETABOLIC DISORDER

2-Hydroxyglutaric (2-HG) acid is a normal component of human urine (4-36 mmol/mol creatinine) and occurs in D and L configurations. Barth et al (1992) reported eight patients with L-2-HG aciduria (230-4300 mmol/mol creatinine, control < 52) with cerebellar dysfunction, extrapyramidal signs, mental regression and eventual development of seizure disorders. L-2-HG acid was elevated in plasma and cerebrospinal fluid (CSF). Chalmers et al (1980) reported a patient with D-2-HG aciduria with protein-losing enteropathy and normal mental development. D-2-HG acid was not increased in blood; CSF was not investigated. We report D-2-HG aciduria in a newborn in whom presentation with severe neurological abnormalities is different from the previous patient. D-2-HG acid was elevated in plasma and CSF. Increased D-2-HG acid in CSF and severe neurological dysfunction suggest that D-2-HG aciduria in this patient may be a new neurometabolic disorder. The sites of potential enzyme defects in this patient include D-2-HG acid dehydrogenase or transhydrogenase.