Menkes disease is a disorder that affects copper levels in the body leading to copper deficiency. It is characterized by sparse, kinky hair; failure to thrive; and deterioration of the nervous system. It is a x-linked recessive genetic disorder resulting in mutations in the ATP7A
gene. Early treatment with copper may improve the prognosis in some affected individuals but most infants do not survive past childhood. There are no approved treatments for this condition.
In the video below, numerous families, including the film creator Daniel DeFabio, share their stories in the hope of raising awareness of this devasting condition.
For more information, visit http://www.themenkesfoundation.org/