Chapter: Biochemistry: Inborn Errors of Metabolism
Albinism
It includes a spectrum of clinical syndromes characterized by hypomelanosis i.e., reduced synthesis of melanin pigment in skin and eyes.
Albinism
It includes a spectrum of clinical syndromes
characterized by hypomelanosis i.e., reduced synthesis of melanin pigment in
skin and eyes. The defect is in the enzyme tyrosinase which is responsible for
the biosynthesis of the pigment and hence the individual appears bleached. In
this condition, melanin is not synthesized in the melanocytes and affects the
skin, hair, sclera and choroids etc. Melanin is synthesized from tyrosine as
shown in the figure 7.3.
Generally, two types of albinism is seen ; a)
Oculo-cutaneous albinism. In this type, there is decreased pigmentation of skin
and eyes, b) Ocular albinism. In this type, there is decreased pigmentation of
only eyes and not the skin.
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Biochemistry: Inborn Errors of Metabolism