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Pathway Description
Mitochondrial DNA Depletion Syndrome-3
Homo sapiens
Disease Pathway
Created: 2013-08-29
Last Updated: 2022-12-02
Mitochondrial DNA depletion syndromes are a group of autosomal recessive disorders. They are characterized by decreased levels of mitochondrial DNA (mtDNA), resulting in decreased energy production. Mitochondrial DNA depletion syndrome-3 is caused by a mutation in the gene coding for deoxyguanosine kinase (DGUOK). DGUOK aids in maintaining the levels of available deoxyguanosine triphosphate (dGTP), thus the deficiency of DGUOK impairs the synthesis of dGTP. Symptoms of DGUOK deficiency can arise in the form of a multi-system disease in neonates or an isolated hepatic disease in infancy, with the former being more common. The most common cause of death in both forms is progressive hepative disease.
References
Mitochondrial DNA Depletion Syndrome-3 References
[Metagen: MITOCHONDRIAL DNA DEPLETION SYNDROME](http://metagene.de/program/d.prg?id_d=434)
[OMIM: 251880](http://omim.org/entry/251880})
[NCBI](http://www.ncbi.nlm.nih.gov/gtr/conditions/C3151513/)
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Pubmed: 23385875
Purine Metabolism References
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