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

Publication date: September 2019Source: Molecular Genetics and Metabolism Reports, Volume 20Author(s): E. Phillips, F. Sasarman, D.S. Sinasac, W. Al-HertaniAbstractD-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.

Source: Molecular Genetics and Metabolism Reports - June 14, 2019 Category: Genetics & Stem Cells Source Type: research