Van gen naar ziekte; de ziekte van menkes: koperdeficiëntie door een ATP7A-gendefect

M Aldenhoven, L W Klomp, P M van Hasselt, T J de Koning, G Visser

Onderzoeksoutputpeer review

1 Citaat (Scopus)
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Samenvatting

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 ofMenkes disease patients.

Vertaalde titel van de bijdrageFrom gene to disease; Menkes disease: copper deficiency due to an ATP7A-gene defect
Originele taal-2Dutch
Pagina's (van-tot)2266-2270
Aantal pagina's5
TijdschriftNederlands Tijdschrift voor Geneeskunde
Volume151
Nummer van het tijdschrift41
StatusPublished - 2007
Extern gepubliceerdJa

Keywords

  • Adenosine Triphosphatases
  • Cation Transport Proteins
  • Copper
  • Gene Deletion
  • Genetic Testing
  • Humans
  • Menkes Kinky Hair Syndrome
  • Phenotype

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