Pyruvate dehydrogenase deficiency

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Pyruvate dehydrogenase deficiency Classification and external resources
ICD-10	E74.4
OMIM	312170
DiseasesDB	30060
eMedicine	ped/1969
MeSH	D015325

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Evidence Based Medicine
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Clinical Trials
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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.

v • d • e Mitochondrial diseases
Myopathies	MELAS - MERRF - KSS - PEO
Other	DAD - Friedreich's ataxia - LHON - Leigh's - NARP - MNGIE - PCD - PDHA - Pearson syndrome

v • d • e Metabolic pathology / Inborn error of metabolism (E70-90, 270-279)
Amino acid	Aromatic (Phenylketonuria, Alkaptonuria, Ochronosis, Tyrosinemia, Albinism, Histidinemia) - Branched chain (Maple syrup urine disease, Propionic acidemia, Methylmalonic acidemia, Isovaleric acidemia, 3-Methylcrotonyl-CoA carboxylase deficiency) - Transport (Cystinuria, Cystinosis, Hartnup disease, Fanconi syndrome, Oculocerebrorenal syndrome) - Sulfur (Homocystinuria, Cystathioninuria) - Urea cycle disorder (N-Acetylglutamate synthase deficiency, Carbamoyl phosphate synthetase I deficiency, Ornithine transcarbamylase deficiency, Citrullinemia, Argininosuccinic aciduria, Hyperammonemia) - Glutaric acidemia type 1 - Sarcosinemia
Carbohydrate	Lactose intolerance - Glycogen storage disease (type I, type II, type III, type IV, type V, type VI, type VII) - fructose metabolism (Fructose intolerance, Fructose bisphosphatase deficiency, Essential fructosuria) - galactose metabolism (Galactosemia, Galactose-1-phosphate uridylyltransferase galactosemia, Galactokinase deficiency) - other intestinal carbohydrate absorption (Glucose-galactose malabsorption, Sucrose intolerance) - pyruvate metabolism and gluconeogenesis (PCD, PDHA) - Pentosuria - Renal glycosuria
Lipid storage	Sphingolipidoses/Gangliosidoses: GM2 gangliosidoses (Sandhoff disease, Tay-Sachs disease) - GM1 gangliosidoses - Mucolipidosis type IV - Gaucher's disease - Niemann-Pick disease - Farber disease - Fabry's disease - Metachromatic leukodystrophy - Krabbe disease Neuronal ceroid lipofuscinosis (Batten disease) - Cerebrotendineous xanthomatosis - Cholesteryl ester storage disease (Wolman disease)
Other lipid	Lipoprotein/lipidemias: Hyperlipidemia - Hypercholesterolemia - Familial hypercholesterolemia - Xanthoma - Combined hyperlipidemia - Lecithin cholesterol acyltransferase deficiency - Tangier disease - Abetalipoproteinemia Fatty acid: Adrenoleukodystrophy - Carnitine (Primary, I, II)
Mineral	Cu Wilson's disease/Menkes disease - Fe Haemochromatosis - Zn Acrodermatitis enteropathica - PO43− Hypophosphatemia/Hypophosphatasia - Mg2+ Hypermagnesemia/Hypomagnesemia - Ca2+ Hypercalcaemia/Hypocalcaemia/Disorders of calcium metabolism
Fluid, electrolyte and acid-base balance	Electrolyte disturbance - Na+ Hypernatremia/Hyponatremia - Acidosis (Metabolic, Respiratory, Lactic) - Alkalosis (Metabolic, Respiratory) - Mixed disorder of acid-base balance - H2O Dehydration/Hypervolemia - K+ Hypokalemia/Hyperkalemia - Cl− Hyperchloremia/Hypochloremia
Purine and pyrimidine	Hyperuricemia - Lesch-Nyhan syndrome - Xanthinuria
Porphyrin	Acute intermittent, Gunther's, Cutanea tarda, Erythropoietic, Hepatoerythropoietic, Hereditary copro-, Variegate
Bilirubin	Unconjugated (Gilbert's syndrome, Crigler-Najjar syndrome) - Conjugated (Dubin-Johnson syndrome, Rotor syndrome)
Glycosaminoglycan	Mucopolysaccharidosis - 1:Hurler/Hunter - 3:Sanfilippo - 4:Morquio - 6:Maroteaux-Lamy - 7:Sly
Glycoprotein	Mucolipidosis - I-cell disease - Pseudo-Hurler polydystrophy - Aspartylglucosaminuria - Fucosidosis - Alpha-mannosidosis - Sialidosis
Other	Alpha 1-antitrypsin deficiency - Cystic fibrosis - Amyloidosis (Familial Mediterranean fever) - Acatalasia

v • d • e WikiDoc Research Resources for Pyruvate dehydrogenase deficiency
Articles on Pyruvate dehydrogenase deficiency	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 (Slides, Video, Images, MP3) on Pyruvate dehydrogenase deficiency	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 Regarding Pyruvate dehydrogenase deficiency	Cochrane Collaboration on Pyruvate dehydrogenase deficiency • Bandolier on Pyruvate dehydrogenase deficiency • TRIP on Pyruvate dehydrogenase deficiency
Cost Effectiveness of Pyruvate dehydrogenase deficiency	Cost Effectiveness of Pyruvate dehydrogenase deficiency
Clinical Trials Involving Pyruvate dehydrogenase deficiency	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 / Government Resources (FDA/CDC) Regarding Pyruvate dehydrogenase deficiency	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
Textbook Information on Pyruvate dehydrogenase deficiency	Books and Textbook Information on Pyruvate dehydrogenase deficiency
Pharmacology Resources on Pyruvate dehydrogenase deficiency	Dosing of Pyruvate dehydrogenase deficiency • Drug interactions with Pyruvate dehydrogenase deficiency • Side effects of Pyruvate dehydrogenase deficiency • Allergic reactions to Pyruvate dehydrogenase deficiency • Overdose information on Pyruvate dehydrogenase deficiency • Carcinogenicity information on Pyruvate dehydrogenase deficiency • Pyruvate dehydrogenase deficiency in pregnancy • Pharmacokinetics of Pyruvate dehydrogenase deficiency •
Genetics, Pharmacogenomics, and Proteinomics of Pyruvate dehydrogenase deficiency	Genetics of Pyruvate dehydrogenase deficiency • Pharmacogenomics of Pyruvate dehydrogenase deficiency • Proteomics of Pyruvate dehydrogenase deficiency
Newstories on Pyruvate dehydrogenase deficiency	Pyruvate dehydrogenase deficiency in the news • Be alerted to news on Pyruvate dehydrogenase deficiency • News trends on Pyruvate dehydrogenase deficiency
Commentary on Pyruvate dehydrogenase deficiency	Blogs on Pyruvate dehydrogenase deficiency
Patient Resources on Pyruvate dehydrogenase deficiency	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 on Pyruvate dehydrogenase deficiency	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) Programs on Pyruvate dehydrogenase deficiency	CME Programs on Pyruvate dehydrogenase deficiency
International Resources on Pyruvate dehydrogenase deficiency	Pyruvate dehydrogenase deficiency en Espanol • Pyruvate dehydrogenase deficiency en Francais
Business Resources on Pyruvate dehydrogenase deficiency	Pyruvate dehydrogenase deficiency in the Marketplace • Patents on Pyruvate dehydrogenase deficiency
Informatics Resources on Pyruvate dehydrogenase deficiency	List of terms related to Pyruvate dehydrogenase deficiency