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H740

Pyruvate Dehydrogenase Deficiency (PDP1) is a heriditary exercise intolerance syndrome and is well known to be associated with inborn errors of metabolism affecting glycolysis and fatty acid oxidation.

10 working days

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Specifications

Breeds

,

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Chromosome

Year Published

General information

Pyruvate Dehydrogenase Deficiency (PDP1) is a heriditary exercise intolerance syndrome and is well known to be associated with inborn errors of metabolism affecting glycolysis and fatty acid oxidation.

Clinical features

Signs are exercise intolerance, lactic acidosis and post-exercise collapse.

Additional information

References

Pubmed ID: 17095275

Omia ID: 1406

Year published:

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