A biotin-dependent enzyme belonging to the ligase family that catalyzes the addition of CARBON DIOXIDE to pyruvate. It is occurs in both plants and animals. Deficiency of this enzyme causes severe psychomotor retardation and ACIDOSIS, LACTIC in infants. EC 6.4.1.1.
See also reference (FX) in Slovak
choroba z deficitu pyruvátkarboxylázy
See also reference (FX) in English
Pyruvate Carboxylase Deficiency Disease
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