A 37‐year‐old Menkes disease patient—Residual ATP7A activity and early copper administration as key factors in beneficial treatment

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Why the study?

Does early parenteral copper-histidine supplementation improve clinical outcomes in a patient with Menkes disease and residual ATP7A activity?

Population

1 patient (37 years old) with Menkes disease and a missense ATP7A variant, p.(Pro852Leu)

Design

Case_report

Follow-up

37 years

Authors

Discussion

Suggests early copper-histidine supplementation may prolong survival in Menkes disease with residual ATP.

Does early parenteral copper-histidine supplementation improve clinical outcomes in a patient with Menkes disease and residual ATP7A activity?

Population

1 patient (37 years old) with Menkes disease and a missense ATP7A variant, p.(Pro852Leu)

Intervention

Early parenteral copper-histidine supplementation (early-onset and long-term copper treatment)

Outcome

Clinical status (neurological symptoms and connective tissue disturbances)

Early-onset and long-term copper treatment can lead to prolonged survival and mild symptoms in Menkes disease patients with residual ATP7A activity.

Tümer et al. (2017) studied this question.

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