These proteins are expressed in the trans-Golgi network that guides copper to intracellular compartments, and in copper excess, it relocates copper to the plasma membrane to pump it out from the cells. 2 The intracellular copper transport is regulated by 2 P type ATPase copper transporters ATP7A and ATP7B.
1,2 About 5%-10% of the patients present with 'atypical Menkes disease' characterized by longer survival, cerebellar ataxia, and developmental delay. Other ATP7A mutations have been linked to juvenile occipital horn syndrome and adult-onset hereditary motor neuropathy. Menkes disease is an X-linked multisystem disorder with epilepsy, kinky hair, and neurodegeneration caused by mutations in the copper transporter ATP7A.
Phenotypic convergence of Menkes and Wilson disease.īansagi, Boglarka Lewis-Smith, David Pal, Endre Duff, Jennifer Griffin, Helen Pyle, Angela Müller, Juliane S Rudas, Gabor Aranyi, Zsuzsanna Lochmüller, Hanns Chinnery, Patrick F Horvath, Rita harsh soaps or alcohols Excessive blow-drying Dry air due to the climate Menkes kinky hair syndrome Malnutrition Underactive parathyroid ( hypoparathyroidism ) Underactive thyroid ( hypothyroidism ) Other hormone abnormalities
