In 16 children the diagnosis had been suspected on the basis of clinical signs: skin lesions, hyperventilation, seizures, spasticity, and laboratory investigation (elevated lactate and metabolites on urine organic acids profile).
In 16 childrenthe diagnosis had been suspected on the basis of clinical signs: skin lesions, hyperventilation, seizures, spasticity,and laboratory investigation (elevated lactate and metabolites on urine organic acids profile).