Van gen naar ziekte; de ziekte van Menkes: Koperdeficiëntie door een ATP7A-gendefect

Research output: Contribution to journalReview article

Abstract

Menkes disease is an X-linked recessive disorder characterized by neurological deterioration, failure to thrive, peculiar hair and death in childhood, secondary to mutations in the ATP7A gene. The ATP7A gene encodes for a copper transporting P-type ATPase (ATP7A), which is ubiquitously expressed. A defect of the ATP7A protein leads to both a reduced transport of copper from the intestine into the circulation and into the central nervous system, as well as reduced transport of copper into the Golgi apparatus for incorporation into various copper-dependent enzymes. This results in a systemic copper deficiency as well as reduced activity of various copper-dependent enzymes. The reduced activity of these copper-dependent enzymes accounts for most of the characteristic features of Menkes disease patients.

Details

Authors
External organisations
  • University Medical Center Utrecht
Translated title of the contributionFrom gene to disease; Menkes disease: Copper deficiency due to an ATP7A-gene defect
Original languageDutch
Pages (from-to)2266-2270
Number of pages5
JournalNederlands Tijdschrift voor Geneeskunde
Volume151
Issue number41
Publication statusPublished - 2007 Oct 13
Publication categoryResearch
Peer-reviewedYes
Externally publishedYes