Open AccessL-2-Hydroxyglutaric Aciduria – a Rare Type of Organic Aciduria Presenting as Seizures and Developmental Delay in a Filipino Child
Author(s) -
Cristine P. Lopez,
Sheryl V. Decena,
Kathleen Gayl D. Fonacier,
Mary Anne D. Chiong
Publication year - 2017
Publication title -
acta medica philippina/acta medica philippina
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.128
H-Index - 4
eISSN - 2094-9278
pISSN - 0001-6071
DOI - 10.47895/amp.v51i3.571
Subject(s) - neuroimaging , inborn error of metabolism , medicine , presentation (obstetrics) , pediatrics , epilepsy , endocrinology , psychiatry , surgery
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.