[Abnormal copper metabolism in adult].
Copper is essential for many enzymatic reactions and in neurotransmitter biosynthesis. Its deficiency or its excess has consequences on many organs, especially the liver and the brain. The biochemical tests performed in case of suspicion of copper metabolism disorder are difficult to analyse. They include the measurement of serum ceruloplasmin, serum copper and 24h urinary copper excretion. The interpretation must take into account the clinical features. We distinguish mainly: (1) copper deficiency, acquired in malabsorption or in copper diet deficiency, or related to a genetic disease (Menkes disease); (2) copper overload, acquired or from a genetic origin (Wilson disease); (3) aceruloplasminemia, reducing ferroxidase activity leading to iron overload. It is important to diagnose these diseases as some of them have an effective treatment if it is started early enough.
Trocello
J-M
JM
Centre national de référence pour la maladie de Wilson, service de neurologie, hôpital Lariboisière, Paris, France. jean-marc.trocello@lrb.aphp.fr
Chappuis
P
P
El Balkhi
S
S
Poupon
J
J
Leyendecker
A
A
Chaine
P
P
Woimant
F
F
D000251:Adenosine Triphosphatases / Q000378:metabolism; D000328:Adult; D001692:Biological Transport; D001921:Brain / Q000378:metabolism; D002570:Ceruloplasmin / Q000378:metabolism; D003300:Copper / Q000097:blood / Q000172:deficiency / Q000378:metabolism* / Q000652:urine; D006527:Hepatolenticular Degeneration / Q000378:metabolism; D006801:Humans; D007408:Intestinal Absorption; D008099:Liver / Q000378:metabolism; D007706:Menkes Kinky Hair Syndrome / Q000235:genetics; D008659:Metabolic Diseases / Q000378:metabolism
D003300:Copper; D002570:Ceruloplasmin; D000251:Adenosine Triphosphatases