Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 7 of 7 for Pyruvate dehydrogenase E3 deficiency
  1. Dihydrolipoamide dehydrogenase deficiency 
    ... syrup urine disease, type III Genetic Testing Registry: Pyruvate dehydrogenase E3 deficiency Pyruvate dehydrogenase E3 deficiency National Organization for Rare ...
    https://medlineplus.gov/...dihydrolipoamide-dehydrogenase-deficiency - Genetics
  2. Pyruvate dehydrogenase deficiency 
    ... Registry: Pyruvate dehydrogenase E2 deficiency Genetic Testing Registry: Pyruvate dehydrogenase E3-binding protein deficiency Genetic Testing Registry: Pyruvate dehydrogenase phosphatase deficiency Pyruvate ...
    https://medlineplus.gov/.../pyruvate-dehydrogenase-deficiency - Genetics
  3. PDHX gene 
    ... Gene ClinVar Brown RM, Head RA, Brown GK. Pyruvate dehydrogenase E3 binding protein deficiency. Hum Genet. 2002 Feb;110(2):187-91. ... Raiman JA, Walter JH, Whitehouse WP, Brown GK. Pyruvate dehydrogenase E3 binding protein (protein X) deficiency. Dev Med Child Neurol. 2006 Sep;48(9): ...
    https://medlineplus.gov/genetics/gene/pdhx - Genetics
  4. DLD gene 
    ... Korotchkina LG, Sidhu S. Interaction of E1 and E3 components with the core proteins ... dehydrogenase deficiency. Biochem Biophys Res Commun. 2000 Mar 16;269( ...
    https://medlineplus.gov/genetics/gene/dld - Genetics
  5. DLAT gene 
    ... PT, Brown GK. Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: ... S. Interaction of E1 and E3 components with the core proteins of the human ...
    https://medlineplus.gov/genetics/gene/dlat - Genetics
  6. PDHA1 gene 
    ... alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency. Hum Mutat. 2000;15(3):209-19. doi: 10.1002/(SICI)1098-1004(200003)15:33.0.CO;2-K. Citation on PubMed Patel MS, Korotchkina LG, Sidhu S. Interaction of E1 and E3 components with the core proteins of the human ...
    https://medlineplus.gov/genetics/gene/pdha1 - Genetics
  7. PDHB gene 
    ... E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency. Mol Genet Metab. 2008 Apr;93(4):371-80. doi: 10.1016/j.ymgme.2007.10.135. Epub 2008 Mar 4. Citation on PubMed Patel MS, Korotchkina LG, Sidhu S. Interaction of E1 and E3 components with the core proteins of the human ...
    https://medlineplus.gov/genetics/gene/pdhb - Genetics