1.Biochemical findings in the first Filipino child confirmed to have nonketotic hyperglycinemia: A case report.
Fodra Esphie Grace D. ; Manliguis Judy S. ; Lopez Cristine P. ; Chiong Mary Anne D.
Acta Medica Philippina 2016;50(2):99-103
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
2.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 ; Judy S. Manliguis ; Cristine P. Lopez ; Sheryl V. Decena ; Kathleen Gayl D. Fonacier ; Mary Anne D. Chiong
Acta Medica Philippina 2017;51(3):223-227
Background. X-linked adrenoleukodystrophy (X-ALD) is a progressive genetic disorder affecting the metabolism of very long chain fatty acids in the adrenal glands, spinal cord and white matter of the nervous system. It is an inherited metabolic storage disease whereby a defect in a specific enzyme results in the accumulation of very long-chain fatty acids (VLCFA) that are harmful to some cells and organs. VLCFA analysis for confirmation of X-linked adrenoleukodystrophy is one of the most requested tests among the send-out laboratory services of the Biochemical Genetics Laboratory at the Institute of Human Genetics. This paper aims to review the clinical characteristics and the results of the VLCFA analysis of the patients whose samples we received for testing.Methods. Overseas tests samples received by the Biochemical Genetics Laboratory for VLCFA from 2002-2016 were included. The details of the patients were collated in an overseas tests database and was the main source of the data for this study. The results of the VLCFA tests sent to the Kennedy Krieger Institute and The Children’s Hospital at Westmead were inputted into the said database. Descriptive statistics was utilized in order to examine the clinical and biochemical data of the patients.Results. The results showed that out of the 54 samples submitted to our laboratory, 19 (35%) of the samples received from male patients suspected to have X-ALD yielded positive results and another 10 (19%) females were found to be carriers. Visual defect followed by deteriorating mental status were the most frequent indications for VLCFA testing. Conclusion. Having a significant diagnostic yield of 54%, early diagnosis of X-linked adrenoleukodystrophy in our population is important so that proper management that could prevent the progression of the disease could be timely instituted.
Metabolism, Inborn Errors
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Peroxisomal Disorders
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Adrenoleukodystrophy