Pyruvate dehydrogenase deficiency: Difference between revisions
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==Overview== | ==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]] | '''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]] | ||
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==Genetics== | ==Genetics== | ||
PDHA is most commonly linked to the alpha unit of [[Pyruvate dehydrogenase|E1]], but recessive variants exist. | PDHA is most commonly linked to the alpha unit of [[Pyruvate dehydrogenase|E1]], but recessive variants exist. | ||
==Treatment== | |||
Use of a [[ketogenic diet]] has been described.<ref name="pmid18990309">{{cite journal |author=Barañano KW, Hartman AL |title=The ketogenic diet: uses in epilepsy and other neurologic illnesses |journal=Curr Treat Options Neurol |volume=10 |issue=6 |pages=410–9 |year=2008 |month=November |pmid=18990309 |pmc=2898565 |doi= 10.1007/s11940-008-0043-8|url=http://www.treatment-options.com/1092-8480/10/410 |format={{dead link|date=May 2010}}}}</ref> | |||
Current research is being conducted on the viability of [[Dichloroacetic acid]] to treat the lactic acidosis commonly accompanied by this disorder.<ref name="pmid16725381">{{cite journal |author=Berendzen K, Theriaque DW, Shuster J, Stacpoole PW |title=Therapeutic potential of dichloroacetate for pyruvate dehydrogenase complex deficiency |journal=Mitochondrion |volume=6 |issue=3 |pages=126–35 |year=2006 |month=June |pmid=16725381 |doi=10.1016/j.mito.2006.04.001 |url=http://linkinghub.elsevier.com/retrieve/pii/S1567-7249(06)00056-0}}</ref><ref name="pmid18647626">{{cite journal |author=Stacpoole PW, Kurtz TL, Han Z, Langaee T |title=Role of dichloroacetate in the treatment of genetic mitochondrial diseases |journal=Adv. Drug Deliv. Rev. |volume=60 |issue=13-14 |pages=1478–87 |year=2008 |pmid=18647626 |doi=10.1016/j.addr.2008.02.014 |url=http://linkinghub.elsevier.com/retrieve/pii/S0169-409X(08)00161-0}}</ref> 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== | |||
{{Reflist}} | |||
{{Mitochondrial diseases}} | {{Mitochondrial diseases}} | ||
Revision as of 03:32, 19 September 2010
| Pyruvate dehydrogenase deficiency | |
| ICD-10 | E74.4 |
|---|---|
| OMIM | 312170 |
| DiseasesDB | 30060 |
| eMedicine | ped/1969 |
| MeSH | D015325 |
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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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