Thelansis

 Menkes disease (MD) is a rare and grave multisystemic disorder characterized by disruptions in copper metabolism. This condition, which primarily affects males due to its X-linked recessive inheritance pattern, is associated with progressive neurodegeneration, connective tissue abnormalities, and distinctive 'kinky' hair. The underlying cause of MD lies in mutations within the ATP7A gene, with most of these mutations manifesting as intragenic alterations or partial gene deletions. The ATP7A gene plays a crucial role as an energy-dependent transmembrane protein responsible for transporting copper to secreted copper enzymes while expelling excess copper from cells. This intricate process ensures the delicate balance of copper within the body, and any mutations in ATP7A can lead to the severe and life-threatening consequences observed in Menkes disease. MD primarily affects males, with most patients succumbing to the disease before reaching their third year of life. The multisyst...

 Menkes disease (MD) is a lethal multisystemic disorder of copper metabolism. The main manifestations are progressive neurodegeneration, connective tissue disturbances, and peculiar ‘kinky’ hair. MD is inherited as an X-linked recessive trait; as expected, most patients are men. MD is caused by mutations in the ATP7A gene, with most ATP7A mutations being intragenic or partial gene deletions. ATP7A is an energy-dependent transmembrane protein that transports copper to secreted copper enzymes and exports excess copper from cells. MD patients who are severely affected usually die before their third year of life. There is no cure for the disease, but very early copper-histidine treatment may alleviate some neurological symptoms. ·        Menkes disease (MD) is a rare condition with incidence estimates ranging from 0.75 to 1.27 cases per 100,000 live births in the USA. It is an inborn disorder of copper metabolism with multisystem ramifications. Thelans...

  Menkes disease (MD) is a lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration and connective tissue disturbances, together with the peculiar ‘kinky’ hair are the main manifestations. MD is inherited as an X-linked recessive trait, and as expected the vast majority of patients are males. MD occurs due to mutations in the ATP7A gene and the vast majority of ATP7A mutations are intragenic mutations or partial gene deletions. ATP7A is an energy-dependent transmembrane protein, which is involved in the delivery of copper to the secreted copper enzymes and in the export of surplus copper from cells. Severely affected MD patients die usually before the third year of life. A cure for the disease does not exist, but very early copper-histidine treatment may correct some of the neurological symptoms. ·        Menkes disease is a rare condition with incidence estimates ranging from 0.75 to 1.27 cases per 100,000 live births in the...