Pyruvate dehydrogenase deficiency

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.

Current research is being conducted on the viability of Dichloroacetic acid to treat the lactic acidosis commonly accompanied by this disorder. 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

Cost Effectiveness of Pyruvate dehydrogenase deficiency

| group5 = Clinical Trials Involving Pyruvate dehydrogenase deficiency | list5 = Ongoing Trials on Pyruvate dehydrogenase deficiency at Clinical Trials.gov • Trial results on Pyruvate dehydrogenase deficiency • Clinical Trials on Pyruvate dehydrogenase deficiency at Google

| group6 = Guidelines / Policies / Government Resources (FDA/CDC) Regarding Pyruvate dehydrogenase deficiency | list6 = 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

| group7 = Textbook Information on Pyruvate dehydrogenase deficiency | list7 = Books and Textbook Information on Pyruvate dehydrogenase deficiency

| group8 = Pharmacology Resources on Pyruvate dehydrogenase deficiency | list8 = AND (Dose)}} Dosing of Pyruvate dehydrogenase deficiency • AND (drug interactions)}} Drug interactions with Pyruvate dehydrogenase deficiency • AND (side effects)}} Side effects of Pyruvate dehydrogenase deficiency • AND (Allergy)}} Allergic reactions to Pyruvate dehydrogenase deficiency • AND (overdose)}} Overdose information on Pyruvate dehydrogenase deficiency • AND (carcinogenicity)}} Carcinogenicity information on Pyruvate dehydrogenase deficiency • AND (pregnancy)}} Pyruvate dehydrogenase deficiency in pregnancy • AND (pharmacokinetics)}} Pharmacokinetics of Pyruvate dehydrogenase deficiency •

| group9 = Genetics, Pharmacogenomics, and Proteinomics of Pyruvate dehydrogenase deficiency | list9 = AND (pharmacogenomics)}} Genetics of Pyruvate dehydrogenase deficiency • AND (pharmacogenomics)}} Pharmacogenomics of Pyruvate dehydrogenase deficiency • AND (proteomics)}} Proteomics of Pyruvate dehydrogenase deficiency

| group10 = Newstories on Pyruvate dehydrogenase deficiency | list10 = Pyruvate dehydrogenase deficiency in the news • Be alerted to news on Pyruvate dehydrogenase deficiency • News trends on Pyruvate dehydrogenase deficiency</small>

| group11 = Commentary on Pyruvate dehydrogenase deficiency | list11 = Blogs on Pyruvate dehydrogenase deficiency

| group12 = Patient Resources on Pyruvate dehydrogenase deficiency | list12 = 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

| group13 = Healthcare Provider Resources on Pyruvate dehydrogenase deficiency | list13 = Symptoms of Pyruvate dehydrogenase deficiency • Causes & Risk Factors for Pyruvate dehydrogenase deficiency • Diagnostic studies for Pyruvate dehydrogenase deficiency • Treatment of Pyruvate dehydrogenase deficiency

| group14 = Continuing Medical Education (CME) Programs on Pyruvate dehydrogenase deficiency | list14 = CME Programs on Pyruvate dehydrogenase deficiency

| group15 = International Resources on Pyruvate dehydrogenase deficiency | list15 = Pyruvate dehydrogenase deficiency en Espanol • Pyruvate dehydrogenase deficiency en Francais

| group16 = Business Resources on Pyruvate dehydrogenase deficiency | list16 = Pyruvate dehydrogenase deficiency in the Marketplace • Patents on Pyruvate dehydrogenase deficiency

| group17 = Informatics Resources on Pyruvate dehydrogenase deficiency | list17 = List of terms related to Pyruvate dehydrogenase deficiency

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