Since the parent also has a normal copy of the gene, they do not have signs or symptoms of PKU. Autosomal recessive pattern of inheritance occurs when the disease is passed to the baby as a result ...

PKU is a rare inherited metabolic disease that affects the brain. It is caused by a deficiency of the enzyme phenylalanine hydroxylase that helps to break down the amino acid phenylalanine. If left ...

The U.S. Food and Drug Administration has approved Sephience (sepiapterin), an oral therapy by PTC Therapeutics, for the treatment of phenylketonuria (PKU), a rare inherited metabolic disorder that ...