Hypoglycemia Complicating Treatment of Phenylketonuria with a Phenylalanine-Deficient Diet

Abstract

PHENYLPYRUVIC oligophrenia or phenylketonuria is a metabolic disease determined by an autosomal recessive gene. The principal clinical feature is progressive mental deterioration, which is present in nearly every case; seizures occur in 10 to 20 per cent of cases. In addition most children affected are remarkably fair of complexion and often have eczema or other skin lesions. The essential biochemical abnormality appears to be a deficiency of the enzyme phenylalanine hydroxylase, which converts phenylalanine to tyrosine. As a result of this enzymatic lack phenylalanine accumulates in excessive amounts in the blood, and large amounts of this amino acid and its . . .