Copper histidine therapy started in a boy at the age of three years – Treatment option for a mild form of Menkes's disease

Abstract

Aims: Menkes's disease is a rare X-chromosomal-linked disorder of copper metabolism caused by mutations in the ATPA7 gene. Copper deficiency and defective intestinal absorption lead to reduced levels in serum, brain and liver tissue. Main clinical features of Menkes's disease are neurological symptoms in combination with pili torti, metaphyseal changes and alterations of connective tissue. A spectrum of a severe neonatal form to a mild variant and occipital Horn disease are described. A causal therapy does not exist. Therefore a symptomatic multimodal individual therapy is required. Copper histidine therapy has been known since the 1970s. Controversial neurological effects have been reported.