Newborn Screening for MCAD Deficiency
نویسندگان
چکیده
منابع مشابه
Newborn screening for MCAD deficiency: experience of the first three years in British Columbia, Canada.
BACKGROUND Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency is an autosomal recessive disorder of fatty acid oxidation, with potential fatal outcome. MCAD deficiency is diagnosed by acylcarnitine analysis on newborn screening blood spot cards by tandem mass spectrometry. Early diagnosis of MCAD and presymptomatic treatment can potentially reduce morbidity and mortality. OBJECTIVES To eva...
متن کامل[Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency].
common disorder of fatty acid oxidation affecting 1 in 13,000 newborns and is inherited as an autosomal recessive disorder. This enzyme deficiency results in the inability to catabolize medium-chain (6-12 carbon molecules) fatty acids for energy utilization. MCAD deficiency often presents in the first two years of life after viral illness or fasting. This inability to break down medium-chain li...
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Nejat Mahdieh1,2, PhD; Bahareh Rabbani1, PhD, and Ali Rabbani*1,3, MD 1. Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran 2. Faculty of Medicine, Ilam University of Medical Sciences, Ilam , Iran 3. Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran 21-hydroxylase deficiency (21-OHD) accounts for the cause of 90-95% of ...
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OBJECTIVE The Alpha-1 Foundation convened a workshop to consider the appropriateness of newborn screening for α-1-antitrypsin (AAT) deficiency. METHODS A review of natural history and technical data was conducted. RESULTS Homozygous ZZ AAT deficiency is a common genetic disease occurring in 1 in 2000 to 3500 births; however, it is underrecognized and most patients are undiagnosed. AAT defic...
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useful addition to the recommendation made in the Institute of Medicine report that journals require sex-specific analyses for publication. However, if the assertion that a coverage requirement is the “best way” to ensure adequately powered tests of men and women implies that a coverage requirement will be more effective than a publication requirement, I would disagree. In relation to a publica...
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ژورنال
عنوان ژورنال: Canadian Journal of Public Health
سال: 2008
ISSN: 0008-4263,1920-7476
DOI: 10.1007/bf03403754