PXE, a Mysterious Inborn Error Clarified

Overview

Journal Trends Biochem Sci

Specialty Biochemistry

Date 2018 Nov 18

PMID 30446375

Citations 24

Authors

Piet Borst

Andras Varadi

Koen van de Wetering

Affiliations

Soon will be listed here.

Abstract

Ever since Garrod deduced the existence of inborn errors in 1901, a vast array of metabolic diseases has been identified and characterized in molecular terms. In 2018 it is difficult to imagine that there is any uncharted backyard left in the metabolic disease landscape. Nevertheless, it took until 2013 to identify the cause of a relatively frequent inborn error, pseudoxanthoma elasticum (PXE), a disorder resulting in aberrant calcification. The mechanism found was not only biochemically interesting but also points to possible new treatments for PXE, a disease that has remained untreatable. In this review we sketch the tortuous road that led to the biochemical understanding of PXE and to new ideas for treatment. We also discuss some of the controversies still haunting the field.

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