title: Amyloidosis in alkaptonuria.
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.
authors: Dipartimento di Biotecnologie, Chimica e Farmacia, Università degli Studi di Siena, via Aldo Moro 2, 53100, Siena, Italy.
authors: Lia
authors: L
authors: Millucci
authors: Daniela
authors: D
authors: Braconi
authors: Giulia
authors: G
authors: Bernardini
authors: Pietro
authors: P
authors: Lupetti
authors: Josef
authors: J
authors: Rovensky
authors: Lakshminaryan
authors: L
authors: Ranganath
authors: Annalisa
authors: A
authors: Santucci
mesh_terms: D000474:Alkaptonuria / Q000150:complications* / Q000378:metabolism / Q000473:pathology; D000686:Amyloidosis / Q000209:etiology* / Q000378:metabolism / Q000473:pathology; D002356:Cartilage / Q000378:metabolism / Q000473:pathology; D006801:Humans; D007249:Inflammation / Q000150:complications / Q000378:metabolism / Q000473:pathology; D009794:Ochronosis / Q000150:complications / Q000378:metabolism / Q000473:pathology; D018384:Oxidative Stress / Q000502:physiology; D013194:Staining and Labeling / Q000379:methods