Which condition is associated with a deficiency in tyrosinase?

Tyrosinase is an essential enzyme involved in the biosynthesis of melanin, the pigment responsible for the color of skin, hair, and eyes. A deficiency in tyrosinase leads to a decreased production of melanin, resulting in albinism. Individuals with albinism lack adequate pigmentation, which can affect their vision and increase their susceptibility to sunburn and skin cancers due to the lack of protective melanin.

In this condition, the inability to convert tyrosine to melanin through the action of tyrosinase is the central issue, and it directly causes the hypopigmentation seen in albinism. This deficiency can be inherited in an autosomal recessive manner, reflecting the genetic basis for the condition.

Other choices refer to different metabolic disorders. PKU arises from a deficiency in phenylalanine hydroxylase, which affects phenylalanine metabolism. Malignant PKU (a severe variant of PKU) is caused by a combination of PKU with other metabolic derangements, while maple syrup urine disease involves a deficiency in branched-chain alpha-keto acid dehydrogenase, impacting the metabolism of certain amino acids. None of these conditions are related to tyrosinase deficiency or pigmentation issues