" /> Pyruvate dehydrogenase phosphatase deficiency - CISMeF





Preferred Label : Pyruvate dehydrogenase phosphatase deficiency;

ICD-11 definition : Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, ) characterized by lactic acidemia in the neonatal period;

ICD-11 synonym : Phosphopyruvate dehydrogenase phosphatase deficiency; PDH - [Pyruvate dehydrogenase] phosphatase deficiency; PDH phosphatase deficiency;

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Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, ) characterized by lactic acidemia in the neonatal period

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27/07/2025


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