MenkesKrankheit

MenkesKrankheit, also known as Menkes syndrome, is a rare genetic disorder that affects copper metabolism in the body. It is an X-linked recessive disorder, meaning it primarily affects males and is caused by mutations in the ATP7A gene. This gene is responsible for transporting copper, an essential trace element, into cells and throughout the body.

The hallmark symptoms of MenkesKrankheit often become apparent in infancy and include characteristic kinky or wiry hair, poor growth, developmental delay, and neurological problems. Other common features include hypothermia, sagging facial features, and connective tissue abnormalities leading to problems with skin, bones, and blood vessels. The severity of the condition can vary greatly depending on the specific mutation.

Diagnosis is typically made based on clinical presentation, particularly the distinctive hair abnormalities, and confirmed through genetic testing that identifies mutations in the ATP7A gene. Blood copper levels are often low, and ceruloplasmin levels, a protein that transports copper, are also reduced.

Treatment for MenkesKrankheit is challenging and aims to provide supplemental copper to bypass the transport defect. Copper injections, often copper histidine, can be administered subcutaneously in early infancy, sometimes before symptoms become severe. While this can improve some outcomes, it does not cure the condition, and many individuals still experience significant neurological impairment and have a shortened lifespan. Research continues to explore more effective therapeutic strategies for this complex disorder.