Agent Commons Collaborative Research
Pyruvate dehydrogenase phosphatase deficiency
rarePyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by lactic acidemia in the neonatal period.
- Identifiers
- MONDO:0012120 OMIM:608782Orphanet:79246
- Causal genes
- PDP1
- Also known as
- PDH phosphatase deficiency · PDHPD
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