Pyruvate dehydrogenase deficiency: Difference between revisions
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{{Metabolic pathology}} | {{Metabolic pathology}} | ||
{{SIB}} | {{SIB}} | ||
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Revision as of 19:58, 12 December 2011
| Pyruvate dehydrogenase deficiency | |
| ICD-10 | E74.4 |
|---|---|
| OMIM | 312170 |
| DiseasesDB | 30060 |
| eMedicine | ped/1969 |
| MeSH | D015325 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
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Overview
Pyruvate Dehydrogenase Deficiency (PDHA) is a human genetic disease. It follows a sex-linked, dominant inheritance pattern, but is approximately equally prevalent in both males and females. It affects a gene which codes for a critical enzyme complex, the Pyruvate dehydrogenase complex (PDC) which links the metabolic pathways of glycolysis and the citric acid cycle by transforming pyruvate into Acetyl CoA
The pyruvate dehydrogenase complex facilitates oxidative decarboxylation, the chemical reaction between glycolysis and the citric acid cycle.
Presentation
PDHA causes Lactic acidosis; large amounts of lactic acid in the blood but with a normal pyruvate/lactate ratio. Symptoms are varied, and include developmental defects (especially of the brain and nervous system), muscular spasticity and early death.
Genetics
PDHA is most commonly linked to the alpha unit of E1, but recessive variants exist.
Treatment
Use of a ketogenic diet has been described.[1]
Current research is being conducted on the viability of Dichloroacetic acid to treat the lactic acidosis commonly accompanied by this disorder.[2][3] Additionally, there is research being conducted on the viability of gene therapy for sufferers of this condition as well as many other mitochondrial defects.
References
- ↑ Barañano KW, Hartman AL (2008). "The ketogenic diet: uses in epilepsy and other neurologic illnesses" ([dead link]). Curr Treat Options Neurol. 10 (6): 410–9. doi:10.1007/s11940-008-0043-8. PMC 2898565. PMID 18990309. Unknown parameter
|month=ignored (help) - ↑ Berendzen K, Theriaque DW, Shuster J, Stacpoole PW (2006). "Therapeutic potential of dichloroacetate for pyruvate dehydrogenase complex deficiency". Mitochondrion. 6 (3): 126–35. doi:10.1016/j.mito.2006.04.001. PMID 16725381. Unknown parameter
|month=ignored (help) - ↑ Stacpoole PW, Kurtz TL, Han Z, Langaee T (2008). "Role of dichloroacetate in the treatment of genetic mitochondrial diseases". Adv. Drug Deliv. Rev. 60 (13–14): 1478–87. doi:10.1016/j.addr.2008.02.014. PMID 18647626.
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