title: Zinc and copper metabolism in oculocutaneous albinism in the Caucasian.
abstract: Abnormalities in the zinc and copper metabolism have been described in some pigmentary retinopathies. In these eye disorders changes in the Retinal Pigment Epithelium are a common finding. Albinism is a manifestation of a metabolic disorder with abnormalities of pigment formation which also occurs in this mentioned retinal layer. Recently, we described abnormalities in the metabolism of these metals in black albino patients. In them, elevated values of ceruloplasmin were found. In the present study we performed a similar work among Caucasians. When both the Caucasian albino and control groups were compared, no statistical difference in the ceruloplasmin, serum zinc and copper and their concentration in urine was present. However, in 7 patients of the Caucasian albino group the serum zinc was distinctly elevated. The mean concentration of ceruloplasmin was high as well. No definitive correlation in regard to the positivity or negativity of tyrosinase was observed. Our findings may support our previous observations regarding albinism as a possible primary abnormality of zinc and copper metabolism.
mesh_terms: D000293:Adolescent; D000328:Adult; D000417:Albinism / Q000378:metabolism*; D002570:Ceruloplasmin / Q000652:urine; D002648:Child; D002675:Child, Preschool; D003300:Copper / Q000378:metabolism*; D006801:Humans; D014442:Monophenol Monooxygenase / Q000378:metabolism; D012164:Retinal Diseases / Q000378:metabolism*; D044465:White People; D015032:Zinc / Q000378:metabolism*
chemical_list: D003300:Copper; D014442:Monophenol Monooxygenase; D002570:Ceruloplasmin; D015032:Zinc