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What is the enzyme deficiency of albinism?

Published in Albinism 1 min read

Albinism is caused by a deficiency in the enzyme tyrosinase. This enzyme is essential for the production of melanin, the pigment that gives color to our skin, hair, and eyes.

Tyrosinase is a copper-containing enzyme that catalyzes the first two steps in the production of melanin. Mutations in the gene encoding tyrosinase cause oculocutaneous albinism Type 1 (OCA1), which is the most common type of albinism.

Individuals with albinism have a reduced or absent amount of melanin, which can lead to a variety of symptoms, including:

  • Light-colored skin, hair, and eyes
  • Vision problems
  • Increased sensitivity to sunlight

There are different types of albinism, and the severity of the condition varies depending on the specific gene mutation.

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