[From gene to disease; Menkes disease: copper deficiency due to an ATP7A-gene defect].
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.
Aldenhoven
M
M
Universitair Medisch Centrum Utrecht, locatie Wilhelmina Kinderziekenhuis, Lundlaan 6, 3584 EA Utrecht.
Klomp
L W
LW
van Hasselt
P M
PM
de Koning
T J
TJ
Visser
G
G
D000251:Adenosine Triphosphatases / Q000235:genetics* / Q000378:metabolism; D027682:Cation Transport Proteins / Q000235:genetics*; D003300:Copper / Q000172:deficiency*; D000073840:Copper-Transporting ATPases; D017353:Gene Deletion; D005820:Genetic Testing; D006801:Humans; D007706:Menkes Kinky Hair Syndrome / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype
D027682:Cation Transport Proteins; D003300:Copper; D000251:Adenosine Triphosphatases; C081184:ATP7A protein, human; D000073840:Copper-Transporting ATPases