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  Albinism

Albinism:

It is an inherited disorder of melanin metabolism characterized by the deficiency of melanin in the skin, hairs and eyes. The clinical features of this disease are the milk-white colored skin and marked photophobia. Albinism is an inborn fault metabolic disease, in this; the genes undergo mutation and do not generate specific enzymes that take part in the metabolic passageway. The metabolism of one amino acid phenylalanine continues in chains of enzyme-mediated reactions. The change or absence of enzyme due to faulty genes, outcomes in physiological abnormalities. In albinism, total lack of melanin pigment (i.e., a dark brown pigment) causes the albino to suffer. The occurrence of albinism in human has been reported to be from 1:5000 - 1:25000. The albinism might be generalized albinism, localize albinism of the eye (i.e., ocular albinism) or partial albinism (i.e., skin and hair). The recessive genes ‘aa’ do not generate the tyrosinase enzyme, that converts DOPA (3,4 – dihydroxy phenyl alanine) into melanin in melanocytes.

 

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