Question

The enzyme defective in albinism is

• A. Herokinase
• B. Tyrosinase
• C. Phenylalanine hydroxylase
• D. Succinyl dehydrogenase

Answer 1

Answer: (B)

Tyrosinase

Albinism refers to a group of conditions in which a defect in the tyrosine metabolism results in a deficiency in the production of melanin, a pigment in the skin, hair and eyes. It is a genetic disorder and results from inheritance of recessive gene alleles. It is due to absence or defect of tyrosinase, a copper-containing enzyme involved in the production of melanin pigment. Albinism appears in different forms and it may be inherited by one of several modes: autosomal recessive, autosomal dominant or Complete albinism (also called oculocutaneous albinism). Affected people may appear to have white hair, skin, and iris colour, and they may have vision defects. They also have photophobia (sunlight is painful to their eyes).