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Pathway Description
Short-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (SCHAD)
Mus musculus
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
Poirier Y, Antonenkov VD, Glumoff T, Hiltunen JK: Peroxisomal beta-oxidation--a metabolic pathway with multiple functions. Biochim Biophys Acta. 2006 Dec;1763(12):1413-26. doi: 10.1016/j.bbamcr.2006.08.034. Epub 2006 Aug 30.
Pubmed: 17028011
Eaton S, Bartlett K, Pourfarzam M: Mammalian mitochondrial beta-oxidation. Biochem J. 1996 Dec 1;320 ( Pt 2):345-57.
Pubmed: 8973539
Kunau WH, Dommes V, Schulz H: beta-oxidation of fatty acids in mitochondria, peroxisomes, and bacteria: a century of continued progress. Prog Lipid Res. 1995;34(4):267-342.
Pubmed: 8685242
Vance, D.E., and Vance, J.E. Biochemistry of lipids, lipoproteins, and membranes (5th ed.) (2008) Amsterdam; Boston: Elsevier.
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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