Pyruvate dehydrogenase phosphatase deficiency

Orpha code: 79246OMIM code: 608782

Definition

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

Disease data
Classification

Clinical subtype

Synonyms
PDH phosphatase deficiency
Niedobór fosfatazy PDH
ORPHA code
79246
OMIM code
608782
ICD10 code
E74.4
ICD11 code
-

No additional description.

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