Menkes syndrome

Diagnosis is confirmed by sequencing the ATP7A gene for pathogenic variants. Once a mutation is identified, carrier testing is recommended for the mother and any female relatives, and prenatal or pre‑implantation testing can be offered for future pregnancies.

Multidisciplinary management includes seizure control with antiepileptics, physical and occupational therapy for hypotonia, nutritional support (often via gastrostomy), regular monitoring of growth and copper levels, and early intervention services for developmental delays.

Newborns may present with unusually sparse, kinky hair (pili torti), poor feeding, hypotonia, and a distinctive “steely” hair texture. Early neurologic signs such as seizures or developmental delay within the first few months also raise suspicion.

Parenteral copper histidine can partially correct the metabolic defect if begun before 4 weeks of age, ideally within the first two weeks of life. Early treatment may improve growth, neurodevelopment, and reduce the frequency of seizures, but benefits are limited if started later.