Authors : Dhiraj J Trivedi, Dhiraj J Trivedi
DOI : 10.18231/j.ijcbr.2020.064
Volume : 7
Issue : 3
Year : 2020
Page No : 297-301
Alkaptonuria is a rare error in tyrosine metabolism. Due to genetic variants severity of disease vary.
Lack of local expertise and difficulty in detection of AKU has been expressed in literature. Onset of
clinical symptoms and ochronosis starts before adult age but timely detection at paediatric age is useful
in prevention of ochronotic arthropathy.
Objective of this technical review is to provide simple, quick and precise chemical methods with reagent
and technical details so as to detect HGA in urine at every primary health care setups to pick up AKU at
early age.
Conclusion: Present technical review explains eight precise, time tested, simple and effective chemical
methods. They are technically less demanding and can be used at primary centre to even at bed side
clinics. Review may increase screening of the disease by medical practitioners and may encourage budding
researchers to contribute in creating data base for prevalence of AKU in India.
Keywords: Alkaptonuria, Homogentisic acid, Ochronosis, Rare disease, Homogentisate dioxygenase, Chemical reactions.