PKU is an autosomal recessive disorder caused by mutations in the PAH gene. The mutation results in a deficiency/absence of the phenylalanine hydroxlyase enzyme that normally catalyzes phenylalanine to tyrosine.
Phenylketonuria causes
Galactosemia causes
Fanconi syndrome causes
Phenylketonuria differential diagnosis
Hemolytic anemia causes
Glucose-6-phosphate dehydrogenase deficiency risk factors
Sickle-cell disease causes
Hurler syndrome causes