GenTIGSA Gene Database on Rare Genetic Disorders
Pyruvate Dehydrogenase E1-alpha Deficiency  
Disease Aliases (6)

Ataxia, intermittent, with abnormal pyruvate metabolism

Ataxia, intermittent, with pyruvate dehydrogenase deficiency

Ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency

Pdhad

Pyruvate dehydrogenase complex e1 component subunit alpha deficiency

Pyruvate dehydrogenase e1-alpha deficiency, x-linked dominant

Associated Genes (0)
 

Cross-references of Pyruvate dehydrogenase E1-alpha deficiency OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations