Menkes disease
Publikation: Bidrag til tidsskrift › Review › Forskning
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Menkes disease. / Tümer, Zeynep; Møller, Lisbeth B.
I: European Journal of Human Genetics, Bind 18, Nr. 5, 2010, s. 511-8.Publikation: Bidrag til tidsskrift › Review › Forskning
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TY - JOUR
T1 - Menkes disease
AU - Tümer, Zeynep
AU - Møller, Lisbeth B
N1 - Keywords: Adenosine Triphosphatases; Animals; Cation Transport Proteins; Copper; Disease Models, Animal; Humans; Menkes Kinky Hair Syndrome; Mutation; Phenotype
PY - 2010
Y1 - 2010
N2 - Menkes disease (MD) is a lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration and connective tissue disturbances, together with the peculiar 'kinky' hair are the main manifestations. MD is inherited as an X-linked recessive trait, and as expected the vast majority of patients are males. MD occurs due to mutations in the ATP7A gene and the vast majority of ATP7A mutations are intragenic mutations or partial gene deletions. ATP7A is an energy dependent transmembrane protein, which is involved in the delivery of copper to the secreted copper enzymes and in the export of surplus copper from cells. Severely affected MD patients die usually before the third year of life. A cure for the disease does not exist, but very early copper-histidine treatment may correct some of the neurological symptoms.
AB - Menkes disease (MD) is a lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration and connective tissue disturbances, together with the peculiar 'kinky' hair are the main manifestations. MD is inherited as an X-linked recessive trait, and as expected the vast majority of patients are males. MD occurs due to mutations in the ATP7A gene and the vast majority of ATP7A mutations are intragenic mutations or partial gene deletions. ATP7A is an energy dependent transmembrane protein, which is involved in the delivery of copper to the secreted copper enzymes and in the export of surplus copper from cells. Severely affected MD patients die usually before the third year of life. A cure for the disease does not exist, but very early copper-histidine treatment may correct some of the neurological symptoms.
U2 - 10.1038/ejhg.2009.187
DO - 10.1038/ejhg.2009.187
M3 - Review
C2 - 19888294
VL - 18
SP - 511
EP - 518
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
SN - 1018-4813
IS - 5
ER -
ID: 20990950