What condition is indicated by severe intellectual disability, seizures, and a fair complexion with musty body odor?

The condition indicated by severe intellectual disability, seizures, a fair complexion, and a musty body odor is phenylketonuria (PKU). PKU is a metabolic disorder resulting from a deficiency of the enzyme phenylalanine hydroxylase, which leads to an inability to properly metabolize the amino acid phenylalanine.

In individuals with PKU, the accumulation of phenylalanine can cause significant neurological damage, resulting in severe intellectual disability if not managed early with diet. The musty body odor is characteristic of PKU and is due to the buildup of certain phenylalanine metabolites. A fair complexion occurs because phenylalanine is essential for the production of melanin; individuals with PKU typically have lower levels of melanin, resulting in lighter skin and hair.

Other conditions presented in the choices, such as maple syrup urine disease, galactosemia, and homocystinuria, present with different symptoms and metabolic disturbances. For example, maple syrup urine disease is characterized by a distinct maple syrup-like odor in urine and neurological deficits but not specifically the musty odor associated with PKU. Galactosemia primarily causes issues related to lactose metabolism, and homocystinuria is associated with a