Human Disease and Mouse Model Detail
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Human Disease
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Pyruvate Dehydrogenase E1-Alpha Deficiency; PDHAD
OMIM ID: 312170
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Synonyms
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Ataxia, Intermittent, with Abnormal Pyruvate Metabolism;
Ataxia, Intermittent, with Pyruvate Dehydrogenase Deficiency;
PDH Deficiency;
Pyruvate Decarboxylase Deficiency;
Pyruvate Dehydrogenase Complex Deficiency
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Genes and
mouse models
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Mutations in human and/or mouse homologs are associated with this disease
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*Gene is associated with the disease in this species |
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Pdha1
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PDHA1*
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1:1 Homology
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Analysis Tools