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Menke Kinky Hair – to treat or not to treat?

Projekter: ProjektForskning

Se relationer på Aarhus Universitet

Beskrivelse

Menke Disease (MD) is a detrimental disease in the copper metabolism resulting in fatal outcome before the 3rd year. Effect of treatment with copper histidine relies on residual enzyme activity and initiation of treatment in the first month of life. In classical MD without residual enzyme function treatment possibly relieves seizure activity, however, it requires daily injections and maximal treatment time is 3 years due to nehprotoxity. Clinical pattern recognition in MD is rarely taking place due to disease rarity and challenging this even more is the subtle signs of disease in the first 3 months of age. We aim to describe the clinical features, discuss possible diagnostic tools and scrutinize if treatment is mandatory.
StatusAfsluttet
Effektiv start/slut dato01/01/201401/01/2017

ID: 129007144