# A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Finding useful health information on the Internet can be difficult, but we’re here to help. This page gathers quality information from trusted sources. You can learn more about the disease, visit handpicked websites, and find resources to help you in your daily life. Need more information? Click the menu on the left to find more!

 

Pyruvate dehydrogenase e3-binding protein deficiency

Lipoamide dehydrogenase deficiency2-oxoglutarate complex deficiencyBranched chain alpha-ketoacid dehydrogenase complex deficiencyDiaphorase deficiencyDihydrolipoyl dehydrogenase deficiencyGlycine cleavage system L protein deficiencyPyruvate dehydrogenase protein X component deficiency
Get Update

Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Pyruvate dehydrogenase e3-binding protein deficiency" returned 0 free, full-text review articles. First 0 results:
No publications were found for this category.
Full PubMed Review articles matches at NCBI:
0 Free Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Pyruvate dehydrogenase e3-binding protein deficiency" returned 0 free, full-text editorial articles. First 0 results:
No publications were found for this category.
Full PubMed Editorials matches at NCBI:
0 Free Editorials

Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Pyruvate dehydrogenase e3-binding protein deficiency" returned 1 free, full-text research articles. First 1 results:
Pyruvate dehydrogenase E3 binding protein (protein X) deficiency.
Last Updated: Nov 11, 2009

Pyruvate dehydrogenase (PDH) deficiency is a major cause of neurological dysfunction and lactic acidosis in infancy and early childhood. The great majority of cases (>80%) result from mutations in the X-linked gene for the E1alpha subunit of the complex (PDHA1). Mutations in the genes ...

Lactic acidosis and developmental delay due to deficiency of E3 binding protein (protein X) of the pyruvate dehydrogenase complex.
Last Updated: Jan 14, 2019

Pyruvate dehydrogenase deficiency is an important cause of primary lactic acidosis. Most cases occur as a result of mutations in the gene for the E1 alpha subunit of the complex, with a small number resulting from mutations in genes for other components, most commonly the E3 and E3-binding ...

Primary pyruvate dehydrogenase E3 binding protein deficiency with mild hyperlactataemia and hyperalaninaemia.
Last Updated: Sep 01, 2019

A case of pyruvate dehydrogenase E3 binding protein deficiency is reported in a 24-year-old male with encephalomyopathy. Blood lactate was only minimally elevated, as was alanine.

Full PubMed Research articles matches at NCBI:
1 Free Research Articles 4 Research Articles