19. Symptoms of Menkes syndrome of Copper Metabolism
qSymptoms of Menkes syndrome are:
1. Bone spurs
2. Brittle, kinky hair
3. Feeding difficulties
4. Irritability
5. Lack of muscle tone, floppiness
6. Low body temperature
7. Mental deterioration
8. Pudgy, rosy cheeks
9. Seizures
10. Skeletal changes
20. Diagnostic Tests and treatment for Menke’s Disease
qDiagnostic Tests for Menke’s Disease include:
1. Serum ceruloplasmin (molecule that transports copper in the blood)
2. Serum copper level
3. Skin cell culture
4. X-ray of the skeleton or x-ray of the skull
5. Genetic testing may show a change (mutation) in the ATP7A gene.
qManagement of Menke’s disease
• Treatment usually only helps when started very early in the course of the
disease. Injections of copper into a vein or under the skin have been used with
mixed results.