Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by severe lactic acidosis, developmental delay and hypotonia.
Comprehensive, easy-to-understand information about this condition
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pyruvate dehydrogenase E2 deficiency
MONDO:0009502
pyruvate dehydrogenase E3-binding protein deficiency
MONDO:0009503
pyruvate dehydrogenase E3 deficiency
MONDO:0009529
pyruvate dehydrogenase E1-alpha deficiency
MONDO:0010717
pyruvate dehydrogenase phosphatase deficiency
MONDO:0012120
lipoic acid synthetase deficiency
MONDO:0013762