Final answer:
Phenylketonuria (PKU) is a genetic disorder that leads to an inability to process the amino acid phenylalanine, causing potential brain damage and intellectual disability. Management involves a strict low-phenylalanine diet and newborn screening. Pregnant individuals with PKU must be particularly vigilant due to risks to the fetus.
Step-by-step explanation:
Phenylketonuria (PKU) is an inherited metabolic disorder wherein individuals cannot adequately metabolize the amino acid phenylalanine due to a deficiency in the enzyme phenylalanine hydroxylase. High levels of phenylalanine can be toxic to the brain, leading to a range of serious symptoms such as intellectual disability, seizures, and hyperactivity. Management of PKU involves adhering to a low-phenylalanine diet, which includes avoiding aspartame found in artificial sweeteners due to its high phenylalanine content. Regular newborn screening for PKU is a critical measure to ensure early dietary management, which can significantly mitigate the severity of symptoms.
Pregnant individuals with PKU must carefully manage their phenylalanine levels to prevent damage to the developing fetus, which could result in heart defects and intellectual disability. The disorder is autosomal recessive, meaning that both parents must carry the defective gene for a child to be affected. Treatment options like the drug Kuvan may be available to those with low activity of phenylalanine hydroxylase.