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.

Jacomelli, G., Micheli, V., Bernardini, G., Millucci, L., Santucci, A. (2017). Quick Diagnosis of Alkaptonuria by Homogentisic Acid Determination in Urine Paper Spots. JIMD REPORTS, 31, 51-56 [10.1007/8904_2016_554].

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

Micheli, Vanna;Bernardini, Giulia;Millucci, Lia;Santucci, Annalisa
2017-01-01

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.
2017
Jacomelli, G., Micheli, V., Bernardini, G., Millucci, L., Santucci, A. (2017). Quick Diagnosis of Alkaptonuria by Homogentisic Acid Determination in Urine Paper Spots. JIMD REPORTS, 31, 51-56 [10.1007/8904_2016_554].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11365/996341