Combined phenylketonuria and pyruvate kinase deficiency. A case report.
We report on a 14-year-old boy who has both phenylketonuria (PKU) and pyruvate kinase deficiency (PKD). Each of these autosomal recessive conditions is a rarity in itself, and we believe that this is the first reported instance of PKU and PKD occurring in the same individual.
D000293:Adolescent; D006801:Humans; D008297:Male; D010661:Phenylketonurias / Q000150:complications*; D011770:Pyruvate Kinase / Q000172:deficiency*
D011770:Pyruvate Kinase