Pyruvate Dehydrogenase E1-alpha Deficiency
| Disease Aliases (13) | Ataxia with lactic acidosis i Ataxia, intermittent, with abnormal pyruvate metabolism Ataxia, intermittent, with pyruvate dehydrogenase deficiency Ataxia with lactic acidosis 1 Ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency Lactic acidemia, thiamine-responsive Pdh deficiency Pdhad Pyruvate decarboxylase deficiency Pyruvate dehydrogenase complex deficiency Pyruvate dehydrogenase complex e1 component subunit alpha deficiency Pyruvate dehydrogenase e1-alpha deficiency; pdhad |
Associated Genes (2) NCBI-RefSeq: PDHA1 (Pyruvate dehydrogenase E1 subunit alpha 1) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: LONP1 (Lon peptidase 1, mitochondrial) External Links: gnomAD browser Ensembl GeneCards
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| Cross-references of Pyruvate dehydrogenase E1-alpha deficiency | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations | |