Contributor: Gordon K. Klintworth
Oculocutaneous tyrosinase positive albinism ( previously called complete perfect albinism) is an inherited type of oculocutaneous albinism with an autosomal recessive mode of inheritance and a positive tyrosinase test. Some individuals with this type of albinism have oculocutaneous albinism type 2 [albinism - oculocutaneous type 2] are caused by a mutation in the P gene; others have oculocutaneous albinism type 4 [albinism - oculocutaneous type 4] which is defined by mutations in MATP. Some individuals with this form of albinism are conceivably due to one or more inhibitors of tyrosinase, which uses tyrosine as a substrate and almost any peptide or protein with an exposed tyrosine or phenylalanine residue can function as a competitive inhibitor. Indeed several endogenous melanogenic inhibitors of this enzyme have been purified and partially characterized, but such substances have not yet been detected in albinos.