L-2-Hydroxyglutaric Aciduria - A rare type of organic Aciduria presenting as seizures and developmental delay in a Filipino child

Author: Cristine P. Lopez ¹ ; Sheryl V. Decena ¹ ; Kathleen Gayl D. Fonacier ¹ ; Mary Anne D. Chiong ¹
Author Information

1. Biochemical Genetics Laboratory, Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila
Publication Type:Case Reports
Keywords: L-2-hydroxyglutaric aciduria; Organic aciduria; Developmental delay; Developmental regression
MeSH: Seizures
From: Acta Medica Philippina 2017;51(3):259-262
CountryPhilippines
Language:English
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.
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