Errors of Inborn Metabolism (Albinism) Flashcards Preview

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Flashcards in Errors of Inborn Metabolism (Albinism) Deck (3)
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1

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

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).

2

How can albinism mess with neural crest cells?

It can prevent the migration of neural crest cells.

3

What is the inheritance pattern of occular albinism?

It is x-linked recessive.