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Pathway Description
Short-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (SCHAD)
Rattus norvegicus
Disease Pathway
3-hydroxyacyl-CoA dehydrogenase deficiency, also known as HADH deficiency or formerly SCHAD deficiency, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of the mitochondrial beta-oxidation of short chain saturated fatty acid pathway. It is caused by a mutation in the HADH gene which encodes the mitochondrial enzyme hydroxyacyl-coenzyme A dehydrogenase. This enzyme is responsible for the beta-oxidation of 3-hydroxyhexanoyl-CoA and 3-hydroxybutyryl-CoA into 3-oxohexanoyl-CoA and acetoacetyl-CoA respectively. Symptoms of HADH deficiency include hypoglycemia, as well as vomiting, diarrhea and seizures. Treatment with diazoxide, a potassium channel activator, has been effective. It is estimated that HADH deficiency affects less than 1 in 1,000,000 individuals.
References
Short-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (SCHAD) References
Eaton S, Chatziandreou I, Krywawych S, Pen S, Clayton PT, Hussain K: Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with hyperinsulinism: a novel glucose-fatty acid cycle? Biochem Soc Trans. 2003 Dec;31(Pt 6):1137-9. doi: 10.1042/.
Pubmed: 14641012
Mitochondrial Beta-Oxidation of Short Chain Saturated Fatty Acids References
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 PW000544
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