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What deficiency causes albinism?

Published in Genetic Disorder 2 mins read

Albinism is caused by a deficiency in the production of melanin, a pigment that gives color to skin, hair, and eyes. This deficiency arises due to genetic mutations that affect the production or function of enzymes involved in melanin synthesis.

Albinism is a group of heritable conditions that can occur in different forms depending on which gene is affected.

There are two primary categories of albinism:

  1. Oculocutaneous albinism affects the skin, hair, and eyes. It is the most common form and is caused by mutations in genes responsible for melanin production, such as the tyrosinase gene.
  2. Ocular albinism primarily affects the eyes. It is caused by mutations in genes involved in the transport of melanin to the eyes.

The lack of melanin in individuals with albinism can result in various symptoms, including:

  • Very pale skin that burns easily in the sun and does not tan.
  • Light-colored hair, which may range from blonde to white.
  • Light-colored eyes, which can be blue, green, or gray.
  • Vision problems, such as nystagmus (rapid eye movements) and photophobia (sensitivity to light).

Albinism is a genetic condition that is inherited from parents. The specific type of albinism a person has depends on the gene mutation they inherit.

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