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- W2003402389 abstract "Inherited defects in mitochondrial fatty-acid beta-oxidation comprise a group of at least 12 diseases characterized by distinct enzyme or transporter deficiencies. Most of these diseases have a variable age of onset and clinical severity. Symptoms are often episodic and associated with mild viral illness, physiologic stress, or prolonged exercise that overwhelms the ability of mitochondria to oxidize fatty acids. Depending on the specific genetic defect, patients develop fasting hypoketotic hypoglycemia, cardiomyopathy, rhabdomyolysis, liver dysfunction, or sudden death. Neuropathy and pigmentary retinopathy are seen in some of the diseases. The diagnosis is based on finding an accumulation of specific biochemical markers such as acylcarnitine metabolites in blood and urinary dicarboxylic acids and acylglycines. Confirmatory testing requires enzymatic studies and DNA analysis. Therapeutic approaches are generally effective in preventing severe symptomatic episodes, including sudden death. Newborn screening for fatty-acid oxidation disorders promises to identify many affected patients before the onset of symptoms." @default.
- W2003402389 created "2016-06-24" @default.
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- W2003402389 date "2008-09-01" @default.
- W2003402389 modified "2023-10-10" @default.
- W2003402389 title "Mitochondrial Fatty-Acid Oxidation Disorders" @default.
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- W2003402389 doi "https://doi.org/10.1016/j.spen.2008.05.008" @default.
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