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• W2017101982 abstract "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." @default.
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• W2017101982 date "2015-04-14" @default.
• W2017101982 modified "2023-10-15" @default.
• W2017101982 title "Amyloidosis in alkaptonuria" @default.
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• W2017101982 doi "https://doi.org/10.1007/s10545-015-9842-8" @default.
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