Km. Gibson et al., D-2-HYDROXYGLUTARIC ACIDURIA IN A NEWBORN WITH NEUROLOGICAL ABNORMALITIES - A NEW NEUROMETABOLIC DISORDER, Journal of inherited metabolic disease, 16(3), 1993, pp. 497-500
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, extrapyram
idal signs, mental regression and eventual development of seizure diso
rders. 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 a
bnormalities is different from the previous patient. D-2-HG acid was e
levated in plasma and CSF. Increased D-2-HG acid in CSF and severe neu
rological dysfunction suggest that D-2-HG aciduria in this patient may
be a new neurometabolic disorder. The sites of potential enzyme defec
ts in this patient include D-2-HG acid dehydrogenase or transhydrogena
se.