L-2-Hydroxyglutaric Aciduria – a Rare Type of Organic Aciduria Presenting as Seizures and Developmental Delay in a Filipino Child

Cristine P. Lopez, Sheryl V. Decena, Kathleen Gayl D. Fonacier and Mary Anne D. Chiong

Biochemical Genetics Laboratory, Institute of Human Genetics,
National Institutes of Health, University of the Philippines Manila

L-2-hydroxyglutaric aciduria (L-2-HGA) is a rare, autosomal recessive organic aciduria with increased levels of L-2-hydroxyglutaric acid in the urine and other body fluids. Clinical presentation includes developmental delay, epilepsy, and typical neuroimaging findings.

This is a report of the clinical, neuroimaging, and biochemical findings of the first diagnosed case of L-2-hydroxyglutaric aciduria in the Philippines. This paper likewise reaffirms the importance of locally available biochemical tests in diagnosing inborn error of metabolism.

Key Words: L-2-hydroxyglutaric aciduria, organic aciduria, developmental delay, seizures, developmental regression