Menkes syndrome is a disorder that affects copper levels in the body. It is characterized by sparse, kinky hair; failure to gain weight and grow at the expected rate (failure to thrive); and deterioration of the nervous system.
Menkes disease is a disorder caused by a #mutation_of_the_ATP7A_gene. This ATP7A gene affects how the body transports copper and maintains copper levels.
The diagnosis of MD is suggested by the appearance of brittle, tangled, sparse, steely or kinky hair at several months of age. Blood tests showing low levels of serum copper and ceruloplasmin support the diagnosis. It is important to note that these levels are typically low in otherwise healthy newborns.
Treatment
Early (ideally within 28 days of age of birth, corrected for prematurity) treatment of Menkes disease is essential. Injections of a copper histidinate (CuHis), a new molecular entity prepared as a freeze-dried product, have been shown to increase the concentration of copper in the blood and improve neurodevelopmental outcomes in some patients. The degree of CuHis treatment efficacy in older, symptomatic Menkes disease patients is less clear.
Genetic counseling is recommended for the parents and families of affected children for a proper understanding of recurrence risk.