Biochemical findings in the first Filipino child confirmed to have nonketotic hyperglycinemia: A case report.
- Author:
Fodra Esphie Grace D.
;
Manliguis Judy S.
;
Lopez Cristine P.
;
Chiong Mary Anne D.
- Publication Type:Case Reports
- Keywords: Amino Acid Analysis; Glycine Encephalopathy
- MeSH: Human; Male; Infant Newborn; Apnea; Chromatography, Liquid; Electrophoresis; Genetic Testing; Glycine; Hyperglycemia; Hyperglycinemia, Nonketotic; Lethargy; Muscle Hypotonia; Philippines; Seizures; Urinalysis
- From: Acta Medica Philippina 2016;50(2):99-103
- CountryPhilippines
- Language:English
-
Abstract:
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 plasma-cerebrospinal 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.
- Full text:Biochemical findings in the first Filipino child confirmed to have nonketotic hyperglycinemia A case report.pdf