Phenylketonuria (PKU) is an autosomal recessive metabolic genetic disorder characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. This enzyme is necessary to metabolize the amino acid phenylalanine (Phe) to the amino acid tyrosine. When PAH activity is reduced, phenylalanine accumulates and is converted into phenylpyruvate (also known as phenylketone), which is detected in the urine.
Untreated PKU can lead to mental retardation, seizures, and other serious medical problems. The mainstream treatment for classic PKU patients is a strict
PHE-restricted diet supplemented by a medical formula containing amino
acids and other nutrients. In the United States, the current recommendation is that the PKU diet should be maintained for life.Patients who are diagnosed early and maintain a strict diet can have a
normal life span with normal mental development. However, recent
research suggests that neurocognitive, psychosocial, quality of life,
growth, nutrition, bone pathology are slightly suboptimal if diet is not
supplemented with amino acids.
Here is a video about managing PKU from PKU.com:
The same website has a good list of recipes that do not look too difficult to make and look tasty.
The "cheat sheet" about PKU from the National Library of Medicine is here.
PKU is just one of 7,000 rare diseases, most without cures
and very few treatments. Please see the rare disease facts at GlobalGenes.org and feel free to share this post with anyone and everyone.
Rare Disease Day is February 28, 2013.