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
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.

Published
2017-09-29
Section
Articles

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