Glossary for Phenylketonuria

• Aminoaciduria: A protein metabolism disorder where excess amino acids are present in the urine.
• Behavioral symptoms: Symptoms of personal behavior.
• Congenital conditions: Any condition that you are born with such as birth defects or genetic diseases.
• Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
• Hypopigmentation: Lack of pigmentation
• Maternal hyperphenylalaninemia: A rare disorder where a mother suffering from phenylketonuria during pregnancy can result in various birth abnormalities.
• Mental retardation: A very rare syndrome characterized mainly by mental retardation, hypogonadism, diabetes and facial and skull abnormalities.
• Mental retardation - dysmorphism - hypogonadism - diabetes: A very rare syndrome characterized mainly by mental retardation, hypogonadism, diabetes and facial and skull abnormalities.
• Phenylketonuria type 2: A genetic condition where phenylalanine (component of protein) is unable to be broken down due to an enzyme (phenylalanine hydroxylase) deficiency which leads to a harmful build up of the compound. The condition is characterized by neurological symptoms as well as the presence of increased levels of phenylalanine in the blood.
• Poor growth: Poor body growth or delayed physical development.

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