About Menkes Disease
Menkes disease is a rare X-linked pediatric disease caused by gene mutations of copper transporter ATP7A, which affects approximately one in 100,000 newborns per year. Biochemically, Menkes patients may have low levels of copper in their blood and brain, as well as abnormal levels of catecholamine. The condition is characterized by distinctive clinical features, including sparse and depigmented hair (“kinky hair”), failure to thrive, connective tissue disorders and severe neurological symptoms such as seizures. Definitive diagnosis is typically made by sequencing of the ATP7A gene. If untreated, mortality for Menkes disease is high, with many patients dying before the age of three. Currently, there is no FDA-approved treatment for Menkes disease and related disorders in copper metabolism.
For more information about Menkes disease, please visit the following sites:
National Institutes of Health (NIH)
National Organization for Rare Disorders (NORD)