![]() Patients with classic MSUD typically have enzyme activity less than 2%. The clinical manifestation of MSUD depends on the severity of BCKAD deficiency. Alloisoleucine which is a by-product of isoleucine transaminatione significantly elevated In MSUD, the degradation of the essential branched-chain amino acids leucine, valine and isoleucine and their derived 2-ketoacids is impaired because of deficiency of BCKAD. Metabolic pathway of branched-chain amino acids degradation. Delayed diagnosis was common among our case series, and 80% of patients had survived with treatment with mild-to-moderate learning difficulties.Ĭonclusion: Our findings suggested that MSUD is not uncommon in Malaysia especially among the Malay and early laboratory diagnosis is crucial. Nineteen patients (76%) were affected by classical MSUD, whereas six patients had non-classical MSUD. Results: Twenty-five patients were diagnosed MSUD. ![]() Patients’ clinical information were obtained from the request forms and case records Plasma amino acids quantitation using fully automated amino acid analyzer and identification of urinary organic acids using Gas Chromatography Mass Spectrometry (GCMS). Methods: A total of 12,728 plasma and urine samples from patients suspected of having IEM were received from physicians all over Malaysia. We analysed the clinical and biochemical profiles of 25 patients with MSUD. We described here our experience in performing high-risk screening for IEM in Malaysia from 1999 to 2006. We have successfully established specific laboratory diagnostic techniques to diagnose MSUD and other IEM. Prior to 1990s, the diagnosis of MSUD and other inborn errors of metabolism (IEM) in Malaysia were merely based on clinical suspicion and qualitative one-dimensional thin layer chromatography technique. Early diagnosis and subsequent nutritional modification management can reduce the morbidity and mortality. Introduction: Maple Syrup Urine Disease (MSUD) is an autosomal recessive disorder caused by defects in the branched-chain α-ketoacid dehydrogenase complex resulting in accumulation of branched-chain amino acids (BCAAs) and corresponding branched-chain ketoacids (BCKAs) in tissues and plasma, which are neurotoxic.
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