has material basis in germline mutation in
PDP1
pyruvate dehydrogenase phosphatase deficiency
https://rarediseases.info.nih.gov/diseases/9888/pyruvate-dehydrogenase-phosphatase-deficiency
OMIM:608782
Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by lactic acidemia in the neonatal period.
Orphanet:79246
PDH phosphatase deficiency
MONDO:0012120
MESH:C536258
UMLS:C1837429
lactic acidemia with pyruvate dehydrogenase phosphatase deficiency
pyruvate dehydrogenase phosphatase deficiency
PDHPD
GARD:9888
pyruvate dehydrogenase deficiency