کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
10163103 1141762 2008 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
LCHADD - niedobór dehydrogenazy 3-hydroksyacylo-CoA długołańcuchowych kwasów tłuszczowych u 4-miesięcznego niemowlęcia
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی امراض پوستی
پیش نمایش صفحه اول مقاله
LCHADD - niedobór dehydrogenazy 3-hydroksyacylo-CoA długołańcuchowych kwasów tłuszczowych u 4-miesięcznego niemowlęcia
چکیده انگلیسی
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency is one of the defects of mitochondrial β-oxidation. It is caused by mutation transmitted as an autosomal recessive trait. It is often characterized by variety of clinical features: hepatopathy, cardiomyopathy and neuromyopathy. The most common laboratory findings are hypoketotic hypoglycemia and metabolic acidosis. There is no causative treatment. Low-fat, high-carbohydrate diet is recommended in the symptomatic therapy. The aim of this report is to describe a case of 4-month infant who died of LCHADD deficiency.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Pediatria Polska - Volume 83, Issue 1, January–February 2008, Pages 82-85
نویسندگان
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