D-2-hydroxyglutaric aciduria in a patient with speech delay due to a novel homozygous deletion in the D2HGDH gene

Abstract

D-2-hydroxyglutaric aciduria is a rare neurometabolic condition with a variable clinical spectrum. Here we report on a patient with speech delay, ascertained for an elevated urine 2-hydroxyglutaric acid levels, and found to have a novel pathogenic homozygous deletion in D2HGDH (NG_012012.1(NM_152783.4):c.(292 + 1_293–1)_(*847_?)del). This case expands on the reported phenotype, with speech delay being the prominent clinical finding and despite identifying a large deletion in the D2HGDH gene, the patient presents with the mild phenotype. Keywords: 2-Hydroxyglutaric, Aciduria, D-2HGA, D2HGDH, Speech, Delay