Menkes disease: underlying genetic defect and new diagnostic possibilities

Z Tümer, N Horn

Abstrakt

Cloning of the gene defective in the X-linked neurodegenerative disorder Menkes disease led to a cascade of new findings. Besides giving a better understanding of the intracellular copper homeostasis, these findings had important consequences from a clinical point of view. Today the underlying genetic defect has been described in several patients affected by one of the three hereditary disorders of copper metabolism: Menkes disease, occipital horn syndrome and wilson disease. In this review we discuss mainly Menkes disease and the impact of the recent findings on the diagnosis of this disorder.

OriginalsprogEngelsk
TidsskriftJournal of Inherited Metabolic Disease
Vol/bind21
Udgave nummer5
Sider (fra-til)604-12
Antal sider9
ISSN0141-8955
DOI
StatusUdgivet - aug. 1998
Udgivet eksterntJa

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