Alkaptonuria

Alkaptonuria is found relatively frequently in Slovakia, Eastern Czechoslovakia (1 in 25,000 inhabitants). Reported herein are the clinical, radiographic, and biochemical aspects and genetics of 126 patients with alkaptonuria. Forty-seven were diagnosed in childhood; the sequential appearance of each manifestation is documented by decade. A simple screening method for this disorder is described. Pedigree analyses confirm recessive inheritance. Possible genetic and sociologic factors responsible for this high frequency of alkaptonuria are discussed.