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Biochemical classification

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

Albinism may be classified biochemically into two groups (1):

  • tyrosinase negative - the loss of tyrosinase activity interferes in the conversion of tyrosine to melanin

  • tyrosinase positive:
    • in some tyrosinase positive albinos there is a defect in a putative tyrosine transporter molecule called protein P
    • in the Chediak-Higashi and Hermansky-Pudlak syndromes there is a defect in the transfer of melanosomes to the keratinocytes

Reference:

  • Lee, S.-T. et al., Mutations of the P gene in oculocutaneous albinism, ocular albinism and Prader-Willi syndrome plus albinism, New Engl. J. Med., 1994, 330(8), p.529-34

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