Alkaptonuria (AKU) is an autosomal recessive disorder due to homogentisate 
1,2-dioxygenase (HGD) deficiency in the liver and characterized by a triad of 
signs, according to chronology of appearance: homogentisic aciduria (HGA) or 
alkaptonuria, ochronosis then ochronotic arthropathy. This inborn error of 
metabolism is caused by mutations in the HGD gene. In this work we report 
observations of 96 AKU French patients from 81 families collected in the 
literature since 1882 and from our personal contribution since 1986, giving an 
incidence of the disease of around 1:680,000 (96/64.10(6)). As expected for an 
autosomal recessive disorder the main findings of this study were: a slight 
predominance of males (51/93, 54,8%) over females (42/93, 45,2%), a strong 
predominance of sibships with one affected individual (68/81, 84,0%) over 
sibships with two (11/81, 13.6%) and three(2/81, 2.4%) affected individuals. AKU 
families are scaterred among the French territory suggesting that most cases 
occured in non-consanguineous unions. Consanguinity was only found in five 
families. Other peculiarities of this study were (a) ten of these families have 
both parents from a foreign geographical origin: Poland(3), Italy(3), 
Portugal(2), Ukraine(1) and India(1) and four families with only one foreign 
parent (Algeria, Armenia, Serbia, UK), (b) HGD mutations were found in 23 
families, (c) four of theses 96 patients were seen by us respectively 28, 29, 39 
and 45 years after their report in the literature and (d) seven patients present 
cardiac and/or renal complications.