What is Menkes Syndrome
after the American pediatrician John H. Menkes
Synonyms: curly hair syndrome, Menkes disease
English: Menkes (kinky hair) syndrome
The Menkes syndrome is a congenital metabolic disorder that is inherited in an X-linked recessive manner and occurs primarily in boys. Occipital horn syndrome is a mild form of Menkes syndrome.
In the first few months after the birth, the children are normal. However, failure to thrive, muscle weakness and delays in development later show up. Furthermore, epileptic seizures can occur. The skin is not very elastic and the hair is curly and gray. It shows a funnel breast and tortuous vessels.
Mutations in the gene are the cause of Menkes syndromeATP7A, which is located on the X chromosome. This codes for a protein that has two functions: In the small intestine, it functions as a transport protein to absorb copper from the food ingested. In the Golgi apparatus, it is involved in the transfer of copper ions to various enzymes that need the metal as a cofactor. If the protein is not functional due to the mutations, this results in a copper deficiency and a loss of function of various enzymes. These are involved in maintaining the structure and function of bones, skin, hair, blood vessels and the nervous system. The pathological shape of the vessels causes damage, especially in the brain.
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