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Pathway Description
Malonyl-CoA Decarboxylase Deficiency
Homo sapiens
Disease Pathway
Created: 2013-08-29
Last Updated: 2022-11-03
Malonyl CoA decarboxylase deficiency, also claled MCD deficiency, is a rare inborn error of fatty acid metabolism and autosomal-recessive metabolic disorder, which is caused by a defective mitochondrial malonyl CoA decarboxylase due to reduced activity. Mitochondrial malonyl CoA decarboxylase catalyzes the conversion of intramitochondrial malonyl CoA to acetyl CoA, which is a key product that involve in many biochemical reactions. This disorder is characterized by a large accumulation of methylmalonic acid in the mitochondrial. Symptoms of the disorder include hypotonia (i.e. weak muscle tone), hypoglycemia (i.e. low blood sugar), diarrhea, seizures and vomiting. The Malonyl CoA decarboxylase deficiency is an extremely rare genetic disease happened in early childhood, which only less than 30 cases have been reported. There is currently no cure for Malonyl CoA decarboxylase deficiency, treatment involves managing the disorder's symptoms.
References
Malonyl-CoA Decarboxylase Deficiency References
[Metagen: MALONYL-COA DECARBOXYLASE DEFICIENCY](http://metagene.de/program/d.prg?id_d=28)
[OMIM: 248360](http://omim.org/entry/248360})
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Propanoate Metabolism References
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