Abstract
In the premolecular biology era, there were two major clinical forms of oculocutaneous albinism (OCA): tyrosinase-negative (ty-neg) and tyrosinase-positive (ty-pos). Tyrosinase is the key enzyme in the melanin biosynthetic pathway (Fig. 79-1), catalyzing three steps in the formation of melanin: (1) tyrosine to dopa (dihydroxyphenylalanine); (2) dopa to dopaquinone; and (3) 5,6-dihydroxyindole to indole-5,6-quinone. This categorization of patients was based primarily upon their clinical appearance with ty-neg patients having the most severe phenotype, i.e., white hair, gray-blue eyes, and pink skin at birth as well as throughout life. An additional diagnostic test was the incubation of anagen hair follicles with tyrosine to determine the presence (ty-pos) or absence (ty-neg) of melanin deposition.
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Bolognia, J.L. (1998). Oculocutaneous Albinism. In: Jameson, J.L. (eds) Principles of Molecular Medicine. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-59259-726-0_79
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DOI: https://doi.org/10.1007/978-1-59259-726-0_79
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