Phenylketonuria, a rare genetic disorder in France, requires strict dietary management and special medical care to prevent severe neurological damage.
Prevalence of phenylketonuria in France
In France, one newborn in 16,000 is affected by phenylketonuria, a rare genetic condition that impairs the body’s ability to break down phenylalanine, an essential amino acid. This leads to harmful levels of the substance in the brain.Impact of untreated phenylketonuria
Untreated phenylketonuria can result in seizures, mental retardation, and physical symptoms such as depigmentation and light hair, due to the body's inability to properly process phenylalanine and produce necessary compounds like tyrosine.Screening and management of the condition
Phenylketonuria is included in France’s national neonatal screening program, allowing early detection. Management involves a strict, lifelong diet low in phenylalanine, with specialized foods provided by hospitals to ensure proper nutrition.Dietary restrictions and treatment options
The diet excludes most protein-rich foods, but some low-phenylalanine foods are allowed in limited amounts. A drug called sapropterine can help some patients reduce their dietary restrictions, as it acts as a synthetic cofactor for the missing enzyme.
