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Pathway Description
Long Chain Acyl-CoA Dehydrogenase Deficiency (LCAD)
Mus musculus
Category:
Metabolite Pathway
Sub-Category:
Disease
Created: 2018-09-10
Last Updated: 2019-08-16
Very Long Chain Acyl CoA Dehydrogenase Deficiency (VLCADD) is a rare disorder that is inherited through an autosomal recessive trait, and prevents the body from properly metabolizing very long chain fatty acids. This disorder occurs in the mitochondria, where the metabolization of fatty acids takes place. Early-onset VLCADD patients usually begin to exhibit symptoms just days or weeks after birth. Hypoglycemia, lethargy and irritability are symptoms associated with this disorder. Patients will also be at risk for hypertrophic cardiomyopathy and other heart conditions from age two months to two years. It can be diagnosed through a research of family history and generally a urine analysis will reveal that the patient has reduced of absent ketone bodies. To help control acute episodes, treatment includes maintaining a high carbohydrate and low fat diet, and avoiding fasting for more than 12 hours.
References
Long Chain Acyl-CoA Dehydrogenase Deficiency (LCAD) References
Goetzman ES, Alcorn JF, Bharathi SS, Uppala R, McHugh KJ, Kosmider B, Chen R, Zuo YY, Beck ME, McKinney RW, Skilling H, Suhrie KR, Karunanidhi A, Yeasted R, Otsubo C, Ellis B, Tyurina YY, Kagan VE, Mallampalli RK, Vockley J: Long-chain acyl-CoA dehydrogenase deficiency as a cause of pulmonary surfactant dysfunction. J Biol Chem. 2014 Apr 11;289(15):10668-79. doi: 10.1074/jbc.M113.540260. Epub 2014 Mar 3.
Pubmed: 24591516
Zhang D, Liu ZX, Choi CS, Tian L, Kibbey R, Dong J, Cline GW, Wood PA, Shulman GI: Mitochondrial dysfunction due to long-chain Acyl-CoA dehydrogenase deficiency causes hepatic steatosis and hepatic insulin resistance. Proc Natl Acad Sci U S A. 2007 Oct 23;104(43):17075-80. doi: 10.1073/pnas.0707060104. Epub 2007 Oct 16.
Pubmed: 17940018
Fatty Acid Metabolism References
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Vance, D.E., and Vance, J.E. Biochemistry of lipids, lipoproteins, and membranes (4th ed.) (2002) Amsterdam; Boston: Elsevier.
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Pubmed: 16141072
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Pubmed: 19468303
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Pubmed: 15489334
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Pubmed: 21183079
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Pubmed: 16916647
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Pubmed: 17208939
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Pubmed: 17242355
This pathway was propagated using PathWhiz -
Pon, A. et al. Pathways with PathWhiz (2015) Nucleic Acids Res. 43(Web Server issue): W552–W559.
Propagated from SMP0000539
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