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Brief facts about phenylketonuria:

Phenylketonuria is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. Untreated PKU can lead to intellectual disability, seizures, behavioral problems, and mental disorders. It may also result in a musty smell and lighter skin. A baby born to a mother who has poorly treated PKU may have heart problems, a small head, and low birth weight. Phenylketonuria is an inherited genetic disorder. It is caused by mutations in the PAH gene, which can result in inefficient or nonfunctional phenylalanine hydroxylase, an enzyme responsible for the metabolism of excess phenylalanine. This results in the buildup of dietary phenylalanine to potentially toxic levels. It is autosomal recessive, meaning that both copies of the gene must be mutated for the condition to develop. There are two main types, classic PKU and variant PKU, depending on whether any enzyme function remains. Those with one copy of a mutated gene typically do not have symptoms.

Hyperphenylalanemia - Hyperphenylalaninemia is a medical condition characterized by mildly or strongly elevated concentrations of the amino acid phenylalanine in the blood. Phenylketonuria can result in severe hyperphenylalaninemia.

Lofenalac - Lofenalac is a registered, trademarked infant powder formula prescribed to replace milk in the diets of Phenylketonuria sufferers in the infant and child stage. It is not recommended for non-PKU patients. In 1972, Lofenalac was declared a food by the FDA, for regulatory purposes.

Tetrahydrobiopterin deficiency - Tetrahydrobiopterin deficiency is a rare metabolic disorder that increases the blood levels of phenylalanine. Phenylalanine is an amino acid obtained normally through the diet, but can be harmful if excess levels build up, causing intellectual disability and other serious health problems.

Flowers for Algernon , which features a character who has phenylketonuria.

Biology of attention deficit hyperactivity disorder

Intellectual disability

Disorders causing seizures

Amino acid metabolism disorders

Skin conditions resulting from errors in metabolism

Autosomal recessive disorders