Description A rare inherited di...
Description
A rare inherited disorder that can cause abnormal mental and physical development. Individuals with PKU do not possess the ability to break down certain parts of protein. This results in the build- up of a specific building block of protein called phenylalanine. This build-up can damage the brain and other organs. If undetected and untreated, PKU results in mental retardation, hyperactivity and seizures.
Symptoms
Newborns are initially asymptomatic. Signs of developmental delay begin as early as 3 months if unrecognized and untreated. Children with PKU have a characteristic appearance. They are typically pale, have blond hair and blue eyes, short stature, small heads and a musty odor. More severe symptoms include developmental delay, irritability, seizures and muscle stiffness.
Tests
Common tests used for diagnosis and treatment
Workup:
A history and physical will be performed. In the United States, all infants are screened for PKU in the first week of life. After a protein meal, a blood test is performed. If abnormally high levels of phenylalanine are present, the diagnosis of PKU is suggested and further confirmatory testing will be ordered.
Other Specific Tests: Phenylalanine
Specialists:
Pediatrics, Pediatric Neurology
Workup:
A history and physical will be performed. In the United States, all infants are screened for PKU in the first week of life. After a protein meal, a blood test is performed. If abnormally high levels of phenylalanine are present, the diagnosis of PKU is suggested and further confirmatory testing will be ordered.
Other Specific Tests: Phenylalanine
Specialists:
Pediatrics, Pediatric Neurology
Treatment
Treatment involves avoiding foods that contain phenylalanine. Patients are placed on a low protein diet that avoids chicken, turkey, fish, eggs, milk and cheese.