What is Menkes syndrome?

By  ,  National Institute of Health
Jul 19, 2010

Menkes syndrome is a genetic disorder that impacts how well the body stores and distributes copper.

Menkes is caused by a mutation in the ATP7A gene that results in poor distribution of copper through the body. Copper builds up in some tissues, such as the small intestine and kidneys, while areas like the brain and liver don’t get enough copper.

Menkes syndrome is an X-linked recessive disorder, meaning that the mutated ATP7A gene is on the X chromosome and the condition is usually inherited. Males are affected by Menkes more often than females. About one-third of Menkes cases result from a spontaneous mutation in the gene, meaning that it occurs without warning and is not inherited.

Occipital horn syndrome is a less severe from of Menkes syndrome that begins in early to middle childhood.

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