title: Alkaptonuria: A Case of Familial Inheritance from Hangarki Village in Dharwad District of Karnataka.
abstract: Alkaptonuria is a genetic disorder, unknown to the general public and ignored by general physicians due to lack of awareness of its high prevalence. Increasing incidences of familial inheritance are recorded. A 41 years 8 months male with the swollen knee, chronic mechanical pain, restricted limping walk and tingling sensation in the limb. Also, has a complaint of the stiffness of back in the morning, which gets relieved by movement. Mild hyper pigmentation of pinna and sclera of eye. X-ray report reveals osteoarthritis of the knee and thoracic kyphosis. After considering clinical finding, report of radiological investigation and Biochemical test results, patient was diagnosed as a case of Alkaptonuria. Screening of entire family revealed a typical case of familial inheritance. Hidden familial inheritance can be disclosed by mass screening of families and medical awareness.
authors.affiliation: Department of Biochemistry, SDM College of Medical Sciences and Hospital, Dharwad, Karnataka India.
authors.forename: Dhiraj J
authors.initials: DJ
authors.lastname: Trivedi
authors.affiliation: Department of Orthopedic, SDM College of Medical Sciences and Hospital, Dharwad, Karnataka India.
authors.forename: Prashanth
authors.initials: P
authors.lastname: Naik
keywords: Alkaptonuria; Black urine; Familial inheritance; Homogentisic acid