This site is intended for healthcare professionals

Sign in
Go to /sign-in page

You can view 5 more pages before signing in

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

Related pages

Create an account to add page annotations

Create a free account

Add information to this page that would be handy to have on hand during a consultation, such as a web address or phone number. This information will always be displayed when you visit this page

The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

Connect

Copyright 2024 Oxbridge Solutions Limited, a subsidiary of OmniaMed Communications Limited. All rights reserved. Any distribution or duplication of the information contained herein is strictly prohibited. Oxbridge Solutions receives funding from advertising but maintains editorial independence.