Results 1 - 10 of 10 for Dihydrolipoamide
  1. Dihydrolipoamide dehydrogenase deficiency is a severe condition that can affect several body systems. Signs and symptoms of this condition usually appear shortly after ...
  2. ... gene provides instructions for making an enzyme called dihydrolipoamide dehydrogenase. This enzyme forms one part (subunit), called ... is one of the enzyme complexes that include dihydrolipoamide dehydrogenase. The BCKD enzyme complex performs one step ...
  3. ... for making the E2 enzyme (also known as dihydrolipoamide acetyltransferase), which is part of a large group ... 70 kDa mitochondrial autoantigen of primary biliary cirrhosis dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex dihydrolipoyllysine-residue ...
  4. ... urine disease. More About This Health Condition BCATE2 dihydrolipoamide branched chain transacylase (E2 component of branched chain ... complex MSUD2 ODB2_HUMAN Tests of DBT PubMed DIHYDROLIPOAMIDE BRANCHED-CHAIN TRANSACYLASE ClinVar NCBI Gene Chi CS, ...
  5. ... about Leigh syndrome More About This Health Condition dihydrolipoamide dehydrogenase-binding protein of pyruvate dehydrogenase complex DLDBP ...
  6. Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. The condition ...
  7. ... Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency. Ann Neurol. 2005 Aug;58( ... Lusk M, Powell BR, Patel MS. Deficiency of dihydrolipoamide dehydrogenase due to two mutant alleles (E340K and ...
  8. ... PMM2 -CDG Cystic fibrosis D-bifunctional protein deficiency Dihydrolipoamide dehydrogenase deficiency Familial dysautonomia Congenital hyperinsulinism , also called ...
  9. Amino Acid Metabolism Disorders (National Library of Medicine)  
    Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Your digestive system breaks ...
  10. 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. ...