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Results 1 - 4 of 4 for Pyruvate dehydrogenase complex deficiency
  1. Pyruvate dehydrogenase deficiency 
    ... with pyruvate dehydrogenase deficiency PDH deficiency PDHC deficiency Pyruvate dehydrogenase complex deficiency Genetic Testing Registry: Pyruvate dehydrogenase complex deficiency Genetic ...
    https://medlineplus.gov/.../pyruvate-dehydrogenase-deficiency - Genetics
  2. Dihydrolipoamide dehydrogenase deficiency 
    ... Mutations in the DLD gene cause dihydrolipoamide dehydrogenase deficiency. ... dehydrogenase (PDH), and alpha (α)-ketoglutarate dehydrogenase (αKGDH). ...
    https://medlineplus.gov/...dihydrolipoamide-dehydrogenase-deficiency - Genetics
  3. Multiple mitochondrial dysfunctions syndrome 
    ... glycine breakdown, cannot function normally. Reduced activity of complex I, II, or III, pyruvate dehydrogenase, or ... scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase ...
    https://medlineplus.gov/...tiple-mitochondrial-dysfunctions-syndrome - Genetics
  4. Leigh syndrome 
    ... caused by variants in genes that form the pyruvate dehydrogenase complex or coenzyme Q10, both of which are involved in ... TYPE 5; MC4DN5 LEIGH SYNDROME, NUCLEAR; NULS ...
    https://medlineplus.gov/genetics/condition/leigh-syndrome - Genetics