Errors of Inborn Metabolism (Albinism)

Question 1

What are the two ways by which Albinism can be caused? What is the inheritance pattern?

Answer 1

1. Deficiency in Tyrosinase, which would result in the inability of making melanin from tyrosine –> AR inheritance pattern.
2. There could be a decrease in the Tyrosine transporters (so we effectively have decreased tyrosine and thus decreased melanin).

Question 2

How can albinism mess with neural crest cells?

Answer 2

It can prevent the migration of neural crest cells.

Question 3

What is the inheritance pattern of occular albinism?

Answer 3

It is x-linked recessive.