کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
4172844 1275781 2011 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Medium-chain acyl-CoA dehydrogenase deficiency – a review
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی پریناتولوژی (پزشکی مادر و جنین)، طب اطفال و بهداشت کودک
پیش نمایش صفحه اول مقاله
Medium-chain acyl-CoA dehydrogenase deficiency – a review
چکیده انگلیسی

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive disorder of fatty acid oxidation with an incidence in the UK of more than 1:10,000. The majority of patients are homozygous for a missense mutation c.985A>G. Newborn screening for this condition was implemented nationally in England and Northern Ireland in 2009 and is planned for Scotland in 2011. Patients with MCADD are at risk during periods of fasting stress, particularly during intercurrent infections, of developing an encephalopathy associated with hypoketotic hypoglycaemia. These can be prevented by giving high calorie drinks (the emergency regimen) during periods of illness but hospital admission is required for intravenous dextrose if the emergency regimen is not tolerated. No specific treatment is required at other times. This review highlights the pathogenesis, the presentation and management of MCADD.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Paediatrics and Child Health - Volume 21, Issue 2, February 2011, Pages 90–93
نویسندگان
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