PKU

• PKU is a metabolic disorder caused by a deficiency of the hepatic enzyme phenylalanine hydroxylase.
• It is inherited in an autosomal recessive pattern and has an incidence of 1 in 10,000 births.
• PKU causes an accumulation of phenylalanine and its metabolites in the body, which can lead to various clinical and biochemical manifestations.
• Symptoms of untreated PKU can include neurological problems, skin rashes, lighter skin and hair color, small head size, hyperactivity, intellectual disability, delayed development, and mental health disorders.
• PKU is mostly detected by screening newborns for increased plasma levels of phenylalanine.
• Diagnosis can also be confirmed by detecting phenyl pyruvate in urine.
• Treatment for PKU is lifelong and may include a special low-phenylalanine diet, medication, or supplements.
• Sapropterin dihydrochloride and Pegvaliase are two medications used to treat PKU.
• Prenatal diagnosis of PKU can be done using cultured amniotic cells.
• PKU can be passed to children by two carrier parents who don't know they have the changed gene.

Test your knowledge on Phenylketonuria (PKU), a rare metabolic disorder that affects approximately 1 in 10,000 newborns. This quiz will cover the causes, symptoms, diagnosis, and treatment of PKU, as well as the importance of prenatal screening and genetic counseling. Whether you're a healthcare professional or just interested in learning more about this condition, this quiz will challenge your understanding of PKU and its impact on patients and families.