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 and Mary Anne D. Chiong

Biochemical Genetics Laboratory, Institute of Human Genetics,
National Institutes of Health, University of the Philippines Manila

 

This is a report of the biochemical findings in the first diagnosed case of Nonketotic Hyperglycinemia (NKH) in the Philippines. Urine metabolic screening by high voltage electrophoresis showing grossly increased glycine necessitated confirmation of NKH. Confirmatory analysis was done by paired plasmacerebrospinal fluid quantitative amino acid analysis using Ultrahigh Performance Liquid Chromatography (UPLC). The result was compatible with the clinical picture of the patient who presented primarily with apnea, seizures, hypotonia and lethargy. This paper emphasizes the importance of locally available biochemical genetic tests in the diagnosis of inborn errors of metabolism.

Key Words: Nonketotic hyperglycinemia, glycine encephalopathy, amino acid analysis