About Menkes Disease
Menkes disease is a rare X-linked recessive pediatric disease caused by gene mutations of the copper transporter ATP7A. The minimum birth prevalence for Menkes disease is believed to be 1 in 34,810 live male births, and potentially as high as 1 in 8,664 live male births, based on recent genome-based ascertainment. (Estimated birth prevalence of Menkes disease and ATP7A-related disorders based on the Genome Aggregation Database (gnomAD)). The condition is characterized by distinctive clinical features, including sparse and depigmented hair (“kinky hair”), connective tissue problems, and severe neurological symptoms such as seizures, hypotonia, failure to thrive, and neurodevelopmental delays. Mortality is high in untreated Menkes disease, with many patients dying between 2-3 years of age. (Early clinical signs and treatment of Menkes disease – ScienceDirect). Milder versions of ATP7A mutations are associated with conditions other than Menkes Disease, such as Occipital Horn Syndrome and ATP7A-related Distal Motor Neuropathy.
For more information about Menkes disease, please visit the following sites:
National Institutes of Health (NIH)
https://rarediseases.info.nih.gov/diseases/1521/menkes-disease
National Organization for Rare Disorders (NORD)