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Results 1 - 10 of 10 for Dihydrolipoamide
  1. Dihydrolipoamide dehydrogenase deficiency 
    Dihydrolipoamide dehydrogenase deficiency is a severe condition that can affect several body systems. Signs and symptoms of ... widely among affected individuals.A common feature of dihydrolipoamide dehydrogenase deficiency is a potentially life-threatening buildup ...
    https://medlineplus.gov/...dihydrolipoamide-dehydrogenase-deficiency - Genetics
  2. DLD gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/dld - Genetics
  3. DLAT gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/dlat - Genetics
  4. DBT gene 
    ... 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; DBT NCBI Gene ClinVar Chi ...
    https://medlineplus.gov/genetics/gene/dbt - Genetics
  5. PDHX gene 
    ... about Leigh syndrome More About This Health Condition dihydrolipoamide dehydrogenase-binding protein of pyruvate dehydrogenase complex DLDBP ...
    https://medlineplus.gov/genetics/gene/pdhx - Genetics
  6. Maple syrup urine disease 
    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 ...
    https://medlineplus.gov/genetics/condition/maple-syrup-urine-disease - Genetics
  7. Pyruvate dehydrogenase deficiency 
    ... 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 ...
    https://medlineplus.gov/.../pyruvate-dehydrogenase-deficiency - Genetics
  8. 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 ...
    https://medlineplus.gov/aminoacidmetabolismdisorders.html - Health Topics
  9. 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. ...
    https://medlineplus.gov/geneticbraindisorders.html - Health Topics
  10. Where can I read more about the diseases and traits covered in my direct-to-consumer genetic testing report?: ... 
    ... PMM2 -CDG Cystic fibrosis D-bifunctional protein deficiency Dihydrolipoamide dehydrogenase deficiency Familial dysautonomia Congenital hyperinsulinism , also called ...
    https://medlineplus.gov/.../dtcgenetictesting/dtcghrpages - Genetics