title: Alkaptonuria.
abstract: 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.
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000474:Alkaptonuria / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics* / Q000652:urine; D002648:Child; D002675:Child, Preschool; D003604:Czechoslovakia; D005260:Female; D006713:Homogentisic Acid / Q000652:urine; D006801:Humans; D008297:Male; D008875:Middle Aged; D009794:Ochronosis / Q000209:etiology; D010375:Pedigree; D010859:Pigmentation Disorders / Q000209:etiology
chemical_list: D006713:Homogentisic Acid