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Pathway Description
Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD)
Homo sapiens
Disease Pathway
Created: 2013-08-29
Last Updated: 2022-12-05
Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD), also called ACADL and VLCAD, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder, which is caused by a defective very long-chain specific acyl-CoA dehydrogenase. Very long-chain specific acyl-CoA dehydrogenase breakdown certain fats to energy. This disorder is characterized by a large accumulation of fatty acids such as L-Palmitoylcarnitine in the mitochondria. Symptoms of the disorder include muscle weakness, lethargy (lack of energy) and hypoglycemia (low blood sugar). Treatment with diet modifications such as consuming supplemental calories is suggested. It is estimated that very long-chain acyl-CoA dehydrogenase deficiency affects 1 in 40,000 to 120,000 individuals.
References
Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD) References
[Metagen: VERY-LONG-CHAIN ACYL CoA DEHYDROGENASE DEFICIENCY (VLCAD)](http://metagene.de/program/d.prg?id_d=392)
[OMIM: 201475](http://omim.org/entry/201475})
[NIH](http://ghr.nlm.nih.gov/condition/very-long-chain-acyl-coa-dehydrogenase-deficiency)
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Pubmed: 23238219
Fatty Acid Metabolism References
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Pubmed: 14702039
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