Definition
Menkes disease is a rare disease characterized by neurological regression and characteristic hair, resulting from copper metabolism disorders.
Symptoms
- Frizzy, brittle hair
- Neurological decline
- Hypotonia
- Convulsions
Reasons
ATP7A gene mutation.
Diagnosis
Serum copper and ceruloplasmin, genetic testing.
Treatment
Copper histidinate.
Which Polyclinic Should You Apply To?
Metabolism Polyclinic
What to Do in an Emergency?
In case of status epilepticus, emergency services should be consulted.
This page is for general information purposes only.