An inherited metabolic disease that is has its basis in the disruption of pyruvate metabolic process.
Comprehensive, easy-to-understand information about this condition
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cerebral creatine deficiency syndrome
MONDO:0000456
disorder of glycogen metabolism
MONDO:0002412
inborn mitochondrial metabolism disorder
MONDO:0004069
inborn disorder of amino acid metabolism
MONDO:0004736
pyruvate kinase hyperactivity
MONDO:0007067
mitochondrial pyruvate carrier deficiency
MONDO:0013877