[Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency].
نویسندگان
چکیده
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 lipids as an energy source during times of fasting and metabolic stress can result in hypoglycemia associated with vomiting, lethargy, apnea, coma, encephalopathy and sudden death.
منابع مشابه
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ورودعنوان ژورنال:
- Nihon rinsho. Japanese journal of clinical medicine
دوره 60 Suppl 4 شماره
صفحات -
تاریخ انتشار 2002