ABSTRACT
Erythematous, scaly eruption; alopecia; episodic, potentially lethal attacks of vomiting, ketosis, acidosis, and dehydration progressive to coma; lactic acidemia; organic aciduria including 3-methylcrotonylglycine, 3-hydroxyisovaleric acid, methylcitric acid, and 3-hydroxypropionic acid; defective activity of the propionyl CoA, 3-methylcrotonyl-CoA and pyruvate carboxylases; and defective activity of holocarboxylase synthetase (Figure 6.1).
