Quick Diagnosis of Alkaptonuria by Homogentisic Acid Determination in Urine Paper Spots.

ABSTRACT:

Objectives

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.

Design and methods

Two methods were designed for HGA determination in DUS:

SUBMITTER: Jacomelli G 

PROVIDER: S-EPMC5388646 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature