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.
|Titolo:||Quick Diagnosis of Alkaptonuria by Homogentisic Acid Determination in Urine Paper Spots|
|Citazione:||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.|
|Appare nelle tipologie:||1.1 Articolo in rivista|
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