Please use this identifier to cite or link to this item: http://hdl.handle.net/20.500.12779/6880
Title: Quick Diagnosis of Alkaptonuria by Homogentisic Acid Determination in Urine Paper Spots
Authors: Jacomelli, Gabriella
Micheli, Vanna
Bernardini, Giulia 
Millucci, Lia 
Santucci, Annalisa 
Issue Date: 2017
Project: None 
Journal: JIMD REPORTS
Abstract: 
Two methods are described for homogentisic acid (HGA) determination in dried urine spots (DUS) on paper from Alkaptonuria (AKU) patients, devised for quick early diagnosis. AKU is a rare autosomal recessive disorder caused by deficiency of homogentisate 1,2-dioxygenase, yielding in accumulation of HGA. Its massive excretion causes urine darkening by exposure to air or alkalinization, and is a diagnostic marker. The deposition of polymers produced after HGA oxidation within the connective tissues causes ochronotic arthritis, a degenerative joint disease manifesting in adulthood and only rarely in childhood. No early diagnosis is usually accomplished, awareness following symptom development.
Description: 
89699
URI: http://hdl.handle.net/20.500.12779/6880
ISSN: 2192-8304
DOI: 10.1007/8904_2016_554
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