Menkes是什么遗传病
发布于 2023-11-13 13:53
Menkesdisease,alsoknownaskinkyhairsyndromeorcopperdeficiencydisorder,isanautosomalrecessivegeneticconditioncharacterizedbysevere铜代谢紊乱andassociatedwithvariousneurologicalsymptomssuchasdevelopmentaldelay,seizures,andmuscleweakness.
ThediseaseiscausedbymutationsintheATP7Agene,whichcodesforaproteininvolvedincoppertransportandmetabolismwithincells.Copperdeficiencyleadstodisruptionofcellularfunctions,includingneuronaldevelopmentandfunction,resultingintheclinicalmanifestationsdescribedabove.
DiagnosisofMenkesdiseasetypicallyinvolvesbloodtestsmeasuringcopperlevels,urinarycopperexcretion,andgenetictestingformutationsintheATP7Agene.
Treatmentconsistsofdietarysupplementationwithcopper,oftenthroughoralchelationtherapyusingpenicillamine.Earlydiagnosisandinterventioncanimproveoutcomesforaffectedindividuals.
Overall,Menkesdiseaseisararebutseriousgeneticconditionthatrequiresspecializedcareandmanagement.
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