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Acta Medica Philippina. Genetics Volume 50 Number 2. 2016
Biochemical Findings in the First Filipino Child Confirmed to have Nonketotic Hyperglycinemia: A Case Report
Esphie Grace D. Fodra
Judy S. Manliguis
Cristine P. Lopez
Mary Anne D. Chiong
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.
Acta Medica Philippina. Genetics Volume 51 Number 3. 2017 pp. 223-227
A Review of the Results of the Very Long Chain Fatty Acid Analyses for X-linked Adrenoleukodystrophy at the Biochemical Genetics Laboratory of the Institute of Human Genetics-National Institutes of Health, Manila
Esphie Grace F. Fojas
DOI: https://doi.org/10.47895/amp.v51i3.1963
Keywords: inborn errors of metabolism, peroxisomal disorders, very long chain fatty acid analysis, X-linked adrenoleukodystrophy
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