Results 1 - 9 of 9 for Pyruvate dehydrogenase complex deficiency
  1. ... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Pyruvate dehydrogenase deficiency On this page: Description Genetic changes Inheritance Diagnosis ...
  2. Genetic Brain Disorders (National Library of Medicine)  
    A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form of a gene. A mutation is a change in a gene. ...
  3. Leigh's Disease From the National Institutes of Health (National Institute of Neurological Disorders and Stroke) - Short Summary  
    ... lack mitochondrial complex IV activity and those with pyruvate dehydrogenase deficiency tend to have the worst prognosis and die ...
  4. Glossary (United Mitochondrial Disease Foundation)  
    ... may develop KSS as they get older. PHD : Pyruvate Dehydrogenase Deficiency. PHOSPHORYLATION : The addition of phosphate to an organic ...
  5. ... Mutations in the DLD gene cause dihydrolipoamide dehydrogenase ... dehydrogenase (PDH), and alpha (α)-ketoglutarate dehydrogenase (αKGDH). ...
  6. Metabolic Disorders (National Library of Medicine)  
    Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive ...
  7. Genetics Home Reference: Leigh syndrome From the National Institutes of Health (National Library of Medicine)  
    ... complex. These mutations lead to a shortage of pyruvate dehydrogenase, an enzyme involved in mitochondrial ... DNA ; dysphagia ; dystonia ; egg ; ...
  8. Mitochondrial Myopathies (Muscular Dystrophy Association) - PDF  
    ... much today. Blood enzyme test 1. Lactate and pyruvate ... deaminase deficiency Myopathies Due to Endocrine ...
  9. Rare Diseases and Related Terms From the National Institutes of Health (Office of Rare Diseases)  
    ... Aplasia of the cord - See Limb-body wall complex * Aplasia of tibia with ectrodactyly - See Cleft ... or decarboxylase, deficiency - See Pyruvate decarboxylase deficiency * Ataxia- ...
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