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01.09.2015 | Review

Amyloidosis in alkaptonuria

verfasst von: Lia Millucci, Daniela Braconi, Giulia Bernardini, Pietro Lupetti, Josef Rovensky, Lakshminaryan Ranganath, Annalisa Santucci

Erschienen in: Journal of Inherited Metabolic Disease | Ausgabe 5/2015

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Abstract

Alkaptonuria (AKU) is an ultra-rare inborn error of metabolism developed from the lack of homogentisic acid oxidase activity, causing homogentisic acid (HGA) accumulation that produces an HGA-melanin ochronotic pigment, of hitherto unknown composition. Besides the accumulation of HGA, the potential role and presence of unidentified proteins has been hypothesized as additional causal factors involved in ochronotic pigment deposition. Evidence has been provided on the presence of serum amyloid A (SAA) in several AKU tissues, which allowed classifying AKU as a novel secondary amyloidosis. In this paper, we will briefly review all direct and indirect lines of evidence related to the presence of amyloidosis in AKU. We also report the first data on abnormal SAA serum levels in a cohort of AKU patients.

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Titel: Amyloidosis in alkaptonuria
verfasst von: Lia Millucci
Daniela Braconi
Giulia Bernardini
Pietro Lupetti
Josef Rovensky
Lakshminaryan Ranganath
Annalisa Santucci
Publikationsdatum: 01.09.2015
Verlag: Springer Netherlands
Erschienen in: Journal of Inherited Metabolic Disease / Ausgabe 5/2015
Print ISSN: 0141-8955
Elektronische ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-015-9842-8

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