We report the first two diagnosed cases of Glutaric Aciduria Type I (GA I) in the Philippines. The diagnosis was confirmed by urinary organic acid analysis by Gas Chromatography-Mass Spectrometry (GC-MS) which showed the characteristic metabolites for GA I. Review of their clinical features showed macrocephaly, developmental delay, seizures, dystonia and choreoathetotic posturing. Cranial CT scan findings were also compatible with previously reported cases. This paper emphasizes the usefulness of locally available biochemical tools in the diagnosis of inborn errors of metabolism as well as the importance of clinical recognition of these disorders.
Human ; Male ; Female ; Child Preschool ; Infant ; MULTIPLE ACYL COENZYME A DEHYDROGENASE DEFICIENCY ; CONGENITAL, HEREDITARY, AND NEONATAL DISEASES AND ABNORMALITIES ; GENETIC DISEASES, INBORN ; METABOLISM, INBORN ERRORS ; AMINO ACID METABOLISM, INBORN ERRORS

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.

Human ; Male ; Infant Newborn ; Apnea ; Chromatography, Liquid ; Electrophoresis ; Genetic Testing ; Glycine ; Hyperglycemia ; Hyperglycinemia, Nonketotic ; Lethargy ; Muscle Hypotonia ; Philippines ; Seizures ; Urinalysis