Menkes Disease

Excerpt

Menkes disease is a rare X-linked recessive progressive multisystemic disease of copper metabolism. Patients usually exhibit a severe clinical course with death in early childhood. Early diagnosis of Menkes disease is clinically very challenging because of the subtle clinical features and nonspecific biochemical markers. Accurate diagnosis is essential for proper management to reduce morbidity and mortality and also for parental counseling and prenatal diagnosis.

Menkes et al first described the disease in 1962. In 1972, Danks et al first observed that copper metabolism was abnormal. In 1973, they noted the similarity between kinky, wiry, or steely hair and the brittle wool of sheep found in copper-deficient areas of Australia. Later, they reported abnormal copper and ceruloplasmin levels in these patients.