Serum concentrations and urinary excretion of homogentisic acid and tyrosine in normal subjects

Davison, AS, Milan, AM, Hughes, AT, Dutton, John and Ranganath, Lakshminarayan (2014) Serum concentrations and urinary excretion of homogentisic acid and tyrosine in normal subjects. In: EuroLabFocus, 2014-10-07 - 2014-10-10.

Full text not available from this repository. (Request a copy)

Abstract

Alkaptonuria (AKU) is a rare, inherited metabolic disease of tyrosine metabolism. Degradation of tyrosine is blocked at the level of homogentisic acid (HGA) due to a congenital lack of the enzyme homogentisate 1,2-dioxygenase. Medical management of AKU has been palliative relying largely on analgesia and arthroplasty. With the establishment of a National Alkaptonuria Centre in Liverpool, nitisinone (NTBC), is being prescribed to AKU patients. Monitoring of off-licence therapy is essential for patient safety. NTBC has resulted in a >95% suppression of HGA excretion with a concurrent rise in serum tyrosine (>500 μmol/L). On-going clinical trials as part of the DevelopAKUre program are assessing the dose of NTBC which suppresses HGA to within the normal healthy population reference range. This study was aimed at determining the reference range of HGA and tyrosine in serum and urine, in a non-AKU population.

Item Type: Conference or Workshop Item (Poster)
Faculty \ School: Faculty of Medicine and Health Sciences > Norwich Medical School
Depositing User: Pure Connector
Date Deposited: 21 Nov 2014 12:30
Last Modified: 22 May 2020 23:41
URI: https://ueaeprints.uea.ac.uk/id/eprint/51129
DOI:

Actions (login required)

View Item View Item