ABSTRACT
There are three phenotypes in each of which concentrations of lactic acid and alanine are elevated and activity of pyruvate carboxylase is deficient.
In the complex type first described from France: severe lactic acidemia, usually fatal in the early months of life, hyperammonemia, citrullinemia, and hyperlysinemia.
In the simple type common in American-Indians: delayed development and infantile episodes of metabolic acidosis with lactic acidemia.
In a more benign presentation, episodic acidosis only.
