Menkes disease is a disorder of copper metabolism characterized by growth failure, developmental delay and progressive neurodegeneration. Patients with Menkes disease may also present hair changes (short, sparse, coarse, twisted hair, and colorless or steel-colored), hypothermia, hypoglycemia, hypotonia, and seizures. Onset of Menkes disease typically begins in the neonatal period.
Menkes disease is caused by mutations in the ATP7A gene. The disorder is inherited in an X-linked recessive pattern.
The incidence of Menkes disease is estimated to be 1 in 100,000 to 360,000 newborns.
Indications for genetic testing:
1. Confirmation of clinical diagnosis
2. Carrier testing for at-risk family members
3. Genetic counseling
4. Prenatal diagnosis for known familial mutation