The Institute of Human Genetics (IHG) began in 1990 as the Medical Genetics Unit of the University of the Philippines College of Medicine which in 1999 became as one of the service and research oriented institutes of the National Institutes of Health-University of the Philippines Manila (NIH-UP). Since then all services of the Medical Genetics Unit were transferred to the Institute and is now the largest provider of genetic services in the country.



Acta Medica Philippina. Genetics Issue 2 Volume 43 Number 1. 2008
Volume 43 Number 1. 2008

A Review of the Results of Chromosomal Analyses Done at the National Institutes of Health from 1991 to 2007
David-Padilla C, Cutiongco-de la Paz EM, Cadag NS, Salonga EAG, and Chiong MAD.
Acta Medica Philippina. Genetics Issue 6 Volume 54 Number 4. 2020
Medical Genetics: …still growing and expanding…GUEST EDITORIAL
Sylvia C. Estrada
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


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