Open AccessA case of alkaptonuria
Author(s) -
I. F. Gilmullin,
A. Sh. Latypov
Publication year - 1987
Publication title -
kazanskij medicinskij žurnal
Language(s) - English
Resource type - Journals
eISSN - 2587-9359
pISSN - 0368-4814
DOI - 10.17816/kazmj95911
Subject(s) - alkaptonuria , character (mathematics) , inheritance (genetic algorithm) , pediatrics , medicine , disease , population , inherited disease , dermatology , pathology , genetics , biology , mathematics , environmental health , geometry , gene
Insignificant population frequency of alkaptonuria - 3-5 per 1,000,000 (H.P. Bochkov et al., 1984), autosomal recessive character of inheritance, which often does not give family accumulation, late development of clinical symptoms (after 40 years) lead to that practical doctors, rarely meeting with the specified pathology and having no indication of family or congenital character of the disease, find it difficult to make a diagnosis.