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[Has Menckes' disease disappeared? Clinical picture and postnatal diagnosis]
Abstract:
Menkes disease is an X-linked recessive disease with an unknown disturbance in the copper-metabolism. We have been diagnosing patients for the last 15 years. Until 1978, six Danish families with Menkes disease were detected. Since 1978 we have only diagnosed one additional patient and one affected fetus in one of the already known families. As the incidence should be about 1 in 45,000 liveborn males, three additional patients should have been seen since 1978. To increase the chances of diagnosing all Danish Menkes patients the clinical symptoms are described. Until now, we have diagnosed 115 Menkes patients and have been in contact with more than 209 Menkes families from many different countries. If we compare the number of inhabitants per Menkes family in different countries, we obtain the following figures, 0.86 x 10(6) inhabitants per Menkes family in Denmark, increasing to 5.21 x 10(6) inhabitants per Menkes family in Italy. Finally some recent experience with copper therapy for treatment of Menkes patients is described.
Insights
Menkes disease, a copper metabolism disorder, is underdiagnosed in Denmark. This study details clinical symptoms to improve diagnosis and discusses copper therapy experiences.
Area of Science:
- Genetics
- Metabolic Disorders
- Pediatrics
Background:
- Menkes disease is an X-linked recessive disorder affecting copper metabolism with unknown mechanisms.
- Previous diagnosis rates in Denmark suggested underdiagnosis since 1978.
Observation:
- The study reviewed 15 years of Menkes disease diagnoses in Denmark.
- Since 1978, only one additional patient and one affected fetus were diagnosed, contrasting with the expected incidence.
- Clinical symptoms are described to aid in diagnosing Danish Menkes patients.
Findings:
- Globally, 115 Menkes patients and over 209 families have been identified.
- Incidence varies by country, with Denmark having a higher rate of Menkes families per capita than Italy.
- Recent experiences with copper therapy for Menkes patients are presented.
Implications:
- Improved diagnostic criteria can help identify all Danish Menkes patients.
- Understanding geographical variations in incidence may reveal environmental or genetic factors.
- Copper therapy offers potential treatment avenues for Menkes disease.