Pyruvate dehydrogenase deficiency
Pyruvate dehydrogenase deficiency (also known as pyruvate dehydrogenase complex deficiency or PDCD) is a rare neurodegenerative disorders associated with abnormal mitochondrial metabolism. PDCD is a genetic disease resulting from mutations in one of the components of the pyruvate dehydrogenase complex (PDC). The PDC is a multi-enzyme complex that plays a vital role as a key regulatory step in the central pathways of energy metabolism in the mitochondria. The disorder shows heterogeneous characteristics in both clinical presentation and biochemical abnormality.
Deficiency of pyruvate dehydrogenaseDihydrolipoyl transacetylaseE3 binding proteinInborn errors of carbohydrate metabolismJohn Paul BlassKetogenic dietLactic acidosisLeigh syndromeList of MeSH codes (C10)List of MeSH codes (C16)List of MeSH codes (C18)List of OMIM disorder codesList of diseases (P)Pyruvate dehydrogenasePyruvate dehydrogenase (lipoamide) alpha 1Pyruvate dehydrogenase (lipoamide) alpha 2Pyruvate dehydrogenase (lipoamide) betaPyruvate dehydrogenase complexPyruvate dehydrogenase complex deficiency disease
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Pyruvate dehydrogenase deficiency
Pyruvate dehydrogenase deficiency (also known as pyruvate dehydrogenase complex deficiency or PDCD) is a rare neurodegenerative disorders associated with abnormal mitochondrial metabolism. PDCD is a genetic disease resulting from mutations in one of the components of the pyruvate dehydrogenase complex (PDC). The PDC is a multi-enzyme complex that plays a vital role as a key regulatory step in the central pathways of energy metabolism in the mitochondria. The disorder shows heterogeneous characteristics in both clinical presentation and biochemical abnormality.
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Deficyt dehydrogenazy pirogron ...... dy zwiększyć aktywność enzymu.
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Der Pyruvat-Dehydrogenase-Mang ...... igan und B. William Uhlendorf.
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La deficiencia de piruvato des ...... ivel clínico como bioquímico.
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Pyruvate dehydrogenase deficie ...... n and biochemical abnormality.
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DiseasesDB
eMedicine subject
ped
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eMedicine topic
1969
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1,022,378,778
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DiseasesDB
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ped
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D015325
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name
Pyruvate dehydrogenase complex deficiency
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OMIM
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Deficyt dehydrogenazy pirogron ...... ów okresu niemowlęcego podaje:
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Der Pyruvat-Dehydrogenase-Mang ...... drogenase (complex) deficiency
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La deficiencia de piruvato des ...... ivel clínico como bioquímico.
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Pyruvate dehydrogenase deficie ...... n and biochemical abnormality.
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label
Deficiencia de piruvato deshidrogenasa
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Deficyt dehydrogenazy pirogronianu
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Pyruvat-Dehydrogenase-Mangel
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Pyruvate dehydrogenase deficiency
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Pyruvate dehydrogenase complex deficiency
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