Phenylketonuria (PKU)

How do people inherit phenylketonuria?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

What other names do people use for phenylketonuria?

  • Deficiency Disease, Phenylalanine Hydroxylase
  • Folling Disease
  • Folling's Disease
  • PAH Deficiency
  • Phenylalanine Hydroxylase Deficiency Disease
  • PKU


"Phenylketonuria." Genetics Home Reference. 16 Dec. 2013.

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