Abnormal copper metabolism in adult

作者：Trocello J M^*; Chappuis P; El Balkhi S; Poupon J; Leyendecker A; Chaine P; Woimant F

来源：Revue de Medecine Interne, 2010, 31(11): 750-756.

DOI：10.1016/j.revmed.2009.11.012

• Copper
• Ceruloplasmin
• Menkes disease
• Wilson disease

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 24 h 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 Iris Important to diagnose these

• 出版日期2010-11