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How to use tests for disorders of copper metabolism
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  • Published on:
    • Antonella Di Nuzzi, Resident in Pediatrics University of Salerno and University of Naples Federico II Joint Pediatrics Residency Programs . Italy
    • Other Contributors:
      • Elisa D'Acunto, Medical Student
      • Pietro Vajro, Professor of Pediatrics

    We read with interest the article by Jane Armer and Christian De Goede appearing in a recent issue of the Journal (1). We congratulate the Authors for their superb job in summarizing such a difficult field represented by the differential diagnosis of disorders of copper metabolism. However, we noticed that in their accurate recognition of the causes of reduced serum values of ceruloplasmin, the Authors missed to mention the Congenital Disorders of Glycosylation (CDGs), which are rare as single disorders but not as a group. CDGs in fact represent nowadays more than 100 distinct genetic multisystem disorders characterized by defective glycosylation of glycoconjugates.(2) We previously signaled that patients with some types of CDGs may have low ceruloplasmin values and abnormal copper metabolism. (3, 4) Presently we know that in at least 3 types of CDGs with prevalent hepatic presentation ± CNS minor signs (TMEM199-CDG, CCDC115-CDG; ATP6AP1-CDG) and 2 with prevalent neurological presentation ± minor signs of hepatic involvement (PMM2-CDG, COG2-CDG) there is a documented disturbance of copper metabolism (Table 1). The mechanisms underlying these abnormalities are unclear, and may probably depend on the biochemical nature of ceruloplasmin itself (a glycoprotein with 6 N-linked glycans) and/or involve at least partial loss of copper transporting proteins. (5) In conclusion, in addition to the group of rare conditions signaled by the Authors, we suggest that the diagnostic algor...

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    Conflict of Interest:
    None declared.