D-2-hydroxyglutaric Aciduria in a Patient with Speech Delay Due to a Novel Homozygous Deletion in the Gene

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 (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 gene, the patient presents with the mild phenotype.