- Pyruvate dehydrogenase deficiency
Pyruvate dehydrogenase deficiency Classification and external resources ICD-10 E74.4 ICD-9 271.8 OMIM 312170 DiseasesDB 30060 eMedicine ped/1969 MeSH D015325
Pyruvate Dehydrogenase Deficiency (PDH) is a genetic disease that involves human metabolism.
Inheritance and pathophysiology
It most commonly follows an X-linked inheritance pattern, but is approximately equally prevalent in both males and females. This is because heterozygote females commonly manifest severe symptoms, an unusual situation in X-linked conditions. Due to the genes involved being essential to life, some of the genetic causes are extremely rare in the order of 1 in millions. 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
PDH 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.
PDH deficiency is most commonly linked to the alpha unit of E1, which is X-linked, but autosomal recessive variants also exist.
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.
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Non-Mendelian inheritance: Mitochondrial diseases (277.87) Carbohydrate metabolismPCD · PDHA Primarily nervous system Myopathies No primary system Chromosomalsee also mitochondrial proteinsB structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfkPDHA · Fumarase deficiency ETC Sex linkage: X-linked disorders X-linked recessive Immune Hematologic Endocrine Metabolicmineral: Menkes disease/Occipital horn syndrome Nervous system
X-Linked mental retardation: Coffin–Lowry syndrome · MASA syndrome · X-linked alpha thalassemia mental retardation syndrome · Siderius X-linked mental retardation syndromeCharcot–Marie–Tooth disease (CMTX2-3) · Pelizaeus–Merzbacher disease · SMAX2
Skin and related tissue Neuromuscular Urologic Bone/tooth No primary system X-linked dominant This article about an endocrine, nutritional or metabolic disease is a stub. You can help Wikipedia by expanding it.