L-2-Hydroxyglutaric Aciduria – a Rare Type of Organic Aciduria Presenting as Seizures and Developmental Delay in a Filipino Child
DOI:
https://doi.org/10.47895/amp.v51i3.571Keywords:
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.