Acta Medica Philippina. Genetics Volume 51 Number 3. 2017 pp. 259-262

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
Mary Anne D. Chiong

DOI: https://doi.org/10.47895/amp.v51i3.571

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

Abstract

L-2-hydroxyglutaric aciduria (L-2-HGA) is a rare, autosomal recessive organic aciduria with increased levels of L-2hydroxyglutaric 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.