Pyruvate dehydrogenase deficiency: Difference between revisions

Jump to navigation Jump to search
No edit summary
 
No edit summary
Line 14: Line 14:
}}
}}
{{SI}}
{{SI}}
{{CMG}}


{{EH}}
{{EH}}
==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]]
Line 26: Line 29:
==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

WikiDoc Resources for Pyruvate dehydrogenase deficiency

Articles

Most recent articles on Pyruvate dehydrogenase deficiency

Most cited articles on Pyruvate dehydrogenase deficiency

Review articles on Pyruvate dehydrogenase deficiency

Articles on Pyruvate dehydrogenase deficiency in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Pyruvate dehydrogenase deficiency

Images of Pyruvate dehydrogenase deficiency

Photos of Pyruvate dehydrogenase deficiency

Podcasts & MP3s on Pyruvate dehydrogenase deficiency

Videos on Pyruvate dehydrogenase deficiency

Evidence Based Medicine

Cochrane Collaboration on Pyruvate dehydrogenase deficiency

Bandolier on Pyruvate dehydrogenase deficiency

TRIP on Pyruvate dehydrogenase deficiency

Clinical Trials

Ongoing Trials on Pyruvate dehydrogenase deficiency at Clinical Trials.gov

Trial results on Pyruvate dehydrogenase deficiency

Clinical Trials on Pyruvate dehydrogenase deficiency at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Pyruvate dehydrogenase deficiency

NICE Guidance on Pyruvate dehydrogenase deficiency

NHS PRODIGY Guidance

FDA on Pyruvate dehydrogenase deficiency

CDC on Pyruvate dehydrogenase deficiency

Books

Books on Pyruvate dehydrogenase deficiency

News

Pyruvate dehydrogenase deficiency in the news

Be alerted to news on Pyruvate dehydrogenase deficiency

News trends on Pyruvate dehydrogenase deficiency

Commentary

Blogs on Pyruvate dehydrogenase deficiency

Definitions

Definitions of Pyruvate dehydrogenase deficiency

Patient Resources / Community

Patient resources on Pyruvate dehydrogenase deficiency

Discussion groups on Pyruvate dehydrogenase deficiency

Patient Handouts on Pyruvate dehydrogenase deficiency

Directions to Hospitals Treating Pyruvate dehydrogenase deficiency

Risk calculators and risk factors for Pyruvate dehydrogenase deficiency

Healthcare Provider Resources

Symptoms of Pyruvate dehydrogenase deficiency

Causes & Risk Factors for Pyruvate dehydrogenase deficiency

Diagnostic studies for Pyruvate dehydrogenase deficiency

Treatment of Pyruvate dehydrogenase deficiency

Continuing Medical Education (CME)

CME Programs on Pyruvate dehydrogenase deficiency

International

Pyruvate dehydrogenase deficiency en Espanol

Pyruvate dehydrogenase deficiency en Francais

Business

Pyruvate dehydrogenase deficiency in the Marketplace

Patents on Pyruvate dehydrogenase deficiency

Experimental / Informatics

List of terms related to Pyruvate dehydrogenase deficiency

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Please Take Over This Page and Apply to be Editor-In-Chief for this topic: There can be one or more than one Editor-In-Chief. You may also apply to be an Associate Editor-In-Chief of one of the subtopics below. Please mail us [2] to indicate your interest in serving either as an Editor-In-Chief of the entire topic or as an Associate Editor-In-Chief for a subtopic. Please be sure to attach your CV and or biographical sketch.

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

  1. 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)
  2. 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)
  3. 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.


Template:Mitochondrial diseases Template:Metabolic pathology

Template:SIB

Template:WikiDoc Sources