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.

A Previously Undiagnosed Case of Alkaptonuria in an 80-Year-Old Patient: A Case Report

“…Very few scattered cases are reported in India [3]. But according to recent case reports, there are localised higher incidences in some parts of south India [1,[3][4][5]. Alkaptonuria is caused by a mutation in the homogentisate 1,2-dioxygenase (HGD) gene, which in turn causes the absence of homogentisate 1,2-dioxygenase, the enzyme produced mainly by hepatocytes in the liver and within the kidney.…”

Detection of Alkaptonuria by simple, effective and precise chemical methods: A technical review

“…6 Though there is a lack of such systemic survey, few scattered cases have been reported from various parts of India. [7][8][9][10][11] Localised higher incidence of AKU among Romani community at Vellore, Tamil Nadu 12 and Dharwad district of Karnataka 13,14 are reported from South India.…”