PXE, a Mysterious Inborn Error Clarified

Piet Borst, András Váradi, Koen van de Wetering

Research output: Contribution to journalReview article

2 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)125-140
Number of pages16
JournalTrends in Biochemical Sciences
Issue number2
Publication statusPublished - Feb 2019



  • ABC-transporters
  • ABCC6
  • Calcification
  • Pseudoxanthoma
  • Pyrophosphate

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology

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