Amyloidosis in alkaptonuria

J Inherit Metab Dis. 2015 Sep;38(5):797-805. doi: 10.1007/s10545-015-9842-8. Epub 2015 Apr 14.

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Alkaptonuria / complications*
  • Alkaptonuria / metabolism
  • Alkaptonuria / pathology
  • Amyloidosis / etiology*
  • Amyloidosis / metabolism
  • Amyloidosis / pathology
  • Cartilage / metabolism
  • Cartilage / pathology
  • Humans
  • Inflammation / complications
  • Inflammation / metabolism
  • Inflammation / pathology
  • Ochronosis / complications
  • Ochronosis / metabolism
  • Ochronosis / pathology
  • Oxidative Stress / physiology
  • Staining and Labeling / methods