Menke's Syndrome
Menke's Syndrome is a rare genetic disorder caused by a mutation in the ATP7A gene, which is responsible for copper transport in the body. This condition leads to a deficiency of copper, resulting in various health issues, including developmental delays, neurological problems, and distinctive physical features such as sparse, kinky hair.
Individuals with Menke's Syndrome often experience symptoms like seizures, hypotonia (decreased muscle tone), and growth failure. Diagnosis typically occurs in infancy, and treatment focuses on managing symptoms and providing supportive care. Early intervention can improve quality of life, but the prognosis remains challenging due to the complexity of the disorder.