Disease

Menkes disease1, 2

Gene

ATP7A

Inheritance XL
Current Treatments subcutaneous injections of copper histidine or copper chloride
Evidence for Treatment guideline3
Non-Molecular Testing Availability yes
Non-Molecular Test serum ceruloplasmin and copper, plasma catechols1
ClinGen https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC013
Disease Frequency (per 100,000) 14
Genes Included in Disease Frequency ATP7A
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Menkes+Disease&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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