Menkes Disease is an X-linked recessive disorder of copper transport.
The disease results from a mutation in ATP7A, which is a copper efflux protein in the intestines. As a result, low blood copper levels are observed, but intestinal copper buildup can be seen. Low copper levels lead to impaired function of copper-dependent enzymes, importantly impairing collagen cross-linking by the enzyme, lysyl-oxidase.
The clinical picture of Menkes disease includes characteristic brittle kinky hair ("kinky hair syndrome"), failure to thrive, and hypotonia in children.
Find Menkes Disease as part of the Collagen and Related Disorders playlist among Pixorize's visual mnemonics for the USMLE Step 1 and NBME Shelf Exams.