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

Abstract

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. 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.

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

“…Trivedi (2020) [ 1 ] has discussed various comprehensive technical details of biochemical methods with reagent preparations so that any primary health centres or small labs will be able to detect positive samples with confidence and contribute to the diagnosis of AKU. These biochemical tests are performed on fresh urine samples [ 1 , 11 ]. HGA gives a variety of positive colour reactions.…”

“…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.…”

“…Alkaptonuria (AKU) is a rare disease of autosomal recessive inheritance. It is generally seen in around 1 in 250,000 to 1 in 500,000 live births worldwide, but higher incidences of 20 to 25 in 500,000 live births are detected in Slovakia and the Dominican Republic [ 1 , 2 ]. Very few scattered cases are reported in India [ 3 ].…”