biochemical classification
Last reviewed 01/2018
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