Maple syrup urine disease in Thai infants.

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dc.contributor.authorPangkanon, Suthipongen_US
dc.contributor.authorCharoensiriwatana, Wiyadaen_US
dc.contributor.authorSangtawesin, Varapornen_US
dc.date.accessioned2009-05-27T18:51:46Z
dc.date.available2009-05-27T18:51:46Z
dc.date.issued2008-10-04en_US
dc.descriptionChotmaihet Thangphaet.en_US
dc.description.abstractMaple syrup urine disease (MSUD) is a rare inborn error of metabolism, caused by a deficiency in activity of the branched chain alpha-keto acid dehydrogenase impairing the degradation of the branched-chain amino acids (leucine, isoleucine and valine). Classic MSUD usually manifests in the neonatal period with poor feeding, vomiting, lethargy, muscular hypertonicity, seizure, coma and death. Thirteen cases of classic MSUD were diagnosed from 1997-2007 at the Queen Sirikit National Institute of Child Health. All cases presented in the neonatal period. The onset of symptoms ranged from 3 to 20 days (median 8 days). The time taken to make the diagnosis ranged from 18 to 356 days (median 55 days). The diagnosis was accomplished by clinical diagnosis and confirmed by detecting abnormal levels of amino acids in the blood and organic acids in the urine. Clinical manifestations were non-specific such as poor suck, weak cry, drowsiness and seizures. Majority of cases were initially diagnosed as sepsis and/or meningitis. All patients had neurological sequelae and psychomotor retardation. This results show the need for increase awareness of metabolic disorder such as MSUD and the requirement for early detection and treatment to ensure a better outcome.en_US
dc.description.affiliationGenetic Unit, Department ofPediatrics, Queen Sirikit National Institute of Child Health, College of Medicine, Rangsit University, Bangkok, Thailand. suthipongsam@hotmail.comen_US
dc.identifier.citationPangkanon S, Charoensiriwatana W, Sangtawesin V. Maple syrup urine disease in Thai infants. Journal of the Medical Association of Thailand. 2008 Oct; 91 Suppl 3(): S41-4en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/39999
dc.language.isoengen_US
dc.source.urihttps://www.mat.or.th/journal/all.phpen_US
dc.subject.mesh3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)en_US
dc.subject.meshAmino Acids, Branched-Chainen_US
dc.subject.meshAntioxidantsen_US
dc.subject.meshFemaleen_US
dc.subject.meshHumansen_US
dc.subject.meshInfanten_US
dc.subject.meshInfant, Newbornen_US
dc.subject.meshMaleen_US
dc.subject.meshMaple Syrup Urine Disease --diagnosisen_US
dc.subject.meshOxidative Stressen_US
dc.subject.meshRisk Factorsen_US
dc.subject.meshThailand --epidemiologyen_US
dc.titleMaple syrup urine disease in Thai infants.en_US
dc.typeJournal Articleen_US
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