Phenylketonuria | Genetics, Signs & Symptoms, Treatment

The video explains phenylketonuria, a genetic disorder affecting phenylalanine metabolism. It covers the inheritance pattern, prevalence among different ethnicities, and the genetic mutations involved. The video details the metabolic pathway of phenylalanine, the role of phenylalanine hydroxylase, and the symptoms caused by its deficiency, such as developmental delay and hypopigmentation. Diagnosis is done at birth, and treatment involves dietary restrictions, particularly avoiding phenylalanine and aspartame, to prevent cognitive impairment.

What is phenylketonuria and how is it inherited?

Describe the genetic basis of phenylketonuria.

What are the consequences of untreated phenylketonuria in early life?

How is phenylketonuria diagnosed?

What dietary restrictions are recommended for individuals with phenylketonuria?

Explain the role of phenylalanine hydroxylase in phenylketonuria.

What are the potential effects of phenyl pyruvic acid on the brain?