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Pathway Description
Short-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (HADH)
Homo sapiens
Disease Pathway
Created: 2013-08-29
Last Updated: 2022-12-20
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 (HADH) References
[Metagen: SHORT-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (SCHAD)](http://metagene.de/program/d.prg?id_d=393)
[OMIM: 601609](http://omim.org/entry/601609})
[NIH](http://ghr.nlm.nih.gov/condition/3-hydroxyacyl-coa-dehydrogenase-deficiency)
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Mitochondrial Beta-Oxidation of Short Chain Saturated Fatty Acids References
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