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pyruvate dehydrogenase phosphatase deficiency

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by lactic acidemia in the neonatal period.
Uniprot Description Results in lactic acidosis leading to neurological dysfunction.
Mondo Term and Equivalent IDs
MONDO:0012120:  pyruvate dehydrogenase phosphatase deficiency
GARD:0009888: 
MESH:C536258: 
Orphanet:79246: 
UMLS:C1837429: