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Review

Menkes disease: what a multidisciplinary approach can do

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Pages 371-385 | Published online: 17 Aug 2016

References

  • MenkesJHAlterMSteiglederGKWeakelyDRSungJHA sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degenerationPediatrics19622976477914472668
  • O’BrienJSSampsonELKinky hair disease. II. Biochemical studiesJ Neuropathol Exp Neurol19662545235305922551
  • DanksDMCampbellPEStevensBJMayneVCartwrightEMenkes’s kinky hair syndrome; an inherited defect in copper absorption with widespread effectsPediatrics19725021882015045349
  • TimerZHornNMenkes Disease: recent advances and new aspectsJ Med Genet19973442652749138147
  • TumerZMollerLBMenkes DiseaseEur J Hum Genet201018551151819888294
  • DanksDMCartwrightEStevensBJTownleyRRMenkes’ kinky hair disease: further definition of the defect in copper transportScience197317978114011424120259
  • TønnesenTKleijerWJHornNIncidence of Menkes diseaseHum Genet19918644084101999344
  • GuYHKodamaHShigaKNakataSYanagawaYOzawaHA survey of Japanese patients with MD from 1990 to 2003: incidence and early signs before typical symptomatic onset, pointing the way to earlier diagnosisJ Inherit Metab Dis200528447347815902550
  • TsukaharaMImaizumiKKawaiSKajiiTOccipital horn syndrome: report of a patient and review of the literatureClin Genet199445132358149649
  • HornNMortonNERaoDCGenetic epidemiology of Menkes diseaseGenet Epidemiol1986342252303744020
  • KapurSHigginsJVDelpKRogersBMenkes syndrome in a girl with X-autosome translocationAm J Med Genet19872625035103812600
  • SirletoPSuraceCSantosHLyonization effects of the t(X; 16) translocation on the phenotypic expression in a rare female with MDPediatr Res200965334735119092723
  • DesaiVDonsanteASwobodaKJMartensenMThompsonJKalerSGFavorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes diseaseClin Genet201179217618220497190
  • MollerLBLenartowiczMZabotMTClinical expression of Menkes disease in females with normal karyotypeOrphanet J Rare Dis20127622264391
  • LinderMCThe Biochemistry of CopperNew York, NYPlenum Press199173134
  • LinderMCWootenLCervezaPCottonSShulzeRLomeliNCopper transportAm J Clin Nutr1998675 supplS965S971
  • VuoriEKuttunenPThe concentrations of copper and zinc in human milk. A longitudinal studyActa Paediatr Scand19796813337758729
  • WapnirRACopper absorption and bioavailabilityAm J Clin Nutr1998675 Suppl10541060
  • TurnlundJRKeyesWRAndersonHLAcordLLCopper absorption and retention in young men at three levels of dietary copper using the stable isotope, 65CuAm J Clin Nutr19894958708782718922
  • ScottKCTurnlundJRCompartment model of copper metabolism in adult menJ Nutr Biochem199457342350
  • HornNTumerZMenkes disease and the occipital horn syndromeRoycePMSteinmannBConnective Tissue and its Heritable Disorders: Molecular, Genetic, and Medical AspectsNew York, NYJohn Wiley and Sons Inc2002651685
  • LeeJPennaMMNoseYThieleDJBiochemical characterization of the human copper transporter Ctr1J Biol Chem200227764380438711734551
  • FormigariAIratoPSantonAZinc, antioxidant systems and metallothionein in metal mediated-apoptosis: biochemical and cytochemical aspectsComp Biochem Physiol C Toxicol Pharmacol2007146444345917716951
  • SpeiskyHGómezMBurgos-BravoFGeneration of superoxide radicals by copper-glutathione complexes: redox-consequences associated with their interaction with reduced glutathioneBioorg Med Chem20091751803181019230679
  • HamzaIProhaskaJGitlinJDEssential role for Atox1 in the copper-mediated intracellular trafficking of the Menkes ATPaseProc Natl Acad Sci USA200310031215122012538877
  • TurskiMLThieleDJNew roles for copper metabolism in cell proliferation, signaling, and diseaseJ Biol Chem2009284271772118757361
  • CulottaVCYangMO’HalloranTVActivation of superoxide dismutases: putting the metal to the pedalBiochim Biophys Acta20061763774775816828895
  • CamakarisJPetrisMJBaileyLGene amplification of the Menkes (MNK; ATP7A) P-type ATPase gene of CHO cells is associated with copper resistance and enhanced copper effluxHum Mol Genet1995411211721238589689
  • MontyJFLlanosRMMercerJFKramerDRCopper exposure induces trafficking of the Menkes protein in intestinal epithelium of ATP7A transgenic miceJ Nutr2005135122762276616317117
  • JankovRPBoerkoelCFHelimannJLethal neonatal Menkes’ disease with severe vasculopathy and fracturesActa Paediatr19988712129713009894833
  • El MeskiniRCrabtreeKLClineLBMainsREEipperBARonnettGVATP7A (Menkes protein) functions in axonal targeting and synaptogenesisMol Cell Neurosci200734340942117215139
  • SchliefMLWestTCraigAMHoltzmanDMGitlinJDRole of the Menkes copper- transporting ATPase in NMDA receptor-mediated neuronal toxicityProc Natl Acad Sci U S A200610340149191492417003121
  • KalerSGGoldsteinDSHolmesCSalernoJAGahlWAPlasma and cerebrospinal fluid neurochemical pattern in Menkes diseaseAnn Neurol19933321711758434878
  • KennersonMLNicholsonGAKalerSGMissense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathyAm J Hum Genet201086334335220170900
  • QinZGongoraMCOzumiKRole of Menkes ATPase in angiotensin II-induced hypertension a key modulator for extracellular superoxide dismutase functionHypertension200852594595118768397
  • RabikCAMaryonEBKaszaKShaferJTBartnikCMDolanMERole of copper transporters in resistance to platinating agentsCancer Chemother Pharmacol200964113314218998134
  • WhiteCLeeJKambeTFritscheKPetrisMJA role for the ATP7A copper transporting ATPase in macrophage bactericidal activityJ Biol Chem200928449339493395619808669
  • KimBETurskiMLNoseYCasadMRockmanHAThieleDJCardiac copper deficiency activates a systemic signaling mechanism that communicates with the copper acquisition and storage organsCell Metab201011535336320444417
  • HornNCopper incorporation studies on cultured cells for prenatal diagnosis of Menkes’ diseaseLancet197630779701156115858201
  • VergaVHallBKWangSRJohnsonSHigginsJVGloverTWLocalization of the translocation breakpoint in a female with Menkes syndrome to Xq13.2-q13.3 proximal to PGK-1Am J Hum Genet1991486113311382035533
  • TumerZTommerupNTonnesenTKreuderJCraigIWHornNMapping of the Menkes locus to Xq13.3 distal to the X-inactivation center by an intrachromosomal insertion of the segment Xq13.3-q21.2Hum Genet19928866686721348049
  • ChellyJTumerZTonnesenTIsolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding proteinNat Genet19933114198490646
  • MercerJALivingstonJHallBIsolation of a partial candidate gene for Menkes disease by positional cloningNat Genet19933120258490647
  • VulpeCLevinsonBWhitneySPackmanSGitschierJIsolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPaseNat Genet1993317138490659
  • StensonPDMortMBallEVThe human gene mutation database: 2008 updateGenome Med2009111319348700
  • GuYHKodamaHMurataYATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndromeAm J Med Genet200199321722211241493
  • KalerSGLiewCJDonsanteAHicksJDSatoSGreenfieldJCMolecular correlates of epilepsy in early diagnosed and treated Menkes diseaseJ Inherit Metab Dis201033558358920652413
  • TumerZMollerLBHornNScreening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7AHum Mutat200322645746414635105
  • KalerSGInborn errors of copper metabolismHandb Clin Neurol20131131745175423622398
  • TumerZAn overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndromeHum Mutat201334341742923281160
  • KalerSGMetabolic and molecular bases of Menkes disease and occipital horn syndromePediatr Dev Pathol199811859810463276
  • DagenaisSLAdamANInnisJWGloverTWA novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes diseaseAm J Hum Genet200169242042711431706
  • MoizardMPRonceNBlessonSTwenty-five novel mutations including duplications in the ATP7A geneClin Genet201179324325321208200
  • KalerSGATP7A-related copper transport diseases-emerging concepts and future trendsNat Rev Neurol201171152921221114
  • KodomaHMurataYKobayashiMClinical manifestations and treatment of Menkes disease and its variantsPediatr Int199941442342910453199
  • GrangeDKKalerSGAlbersGMPetterchakJAThorpeCMDeMelloDESevere bilateral panlobular emphysema and pulmonary arterial hypoplasia: unusual manifestations of Menkes diseaseAm J Med Genet A2005139215115516278898
  • GuYHKodamaHKatoTCongenital abnormalities in Japanese patients with Menkes diseaseBrain Dev201234974674922361452
  • MooreCMHowellRREctodermal manifestations in Menkes diseaseClin Genet19852865325404075564
  • MizuguchiMItohMOzawaHMorikawaYA 2-year-old boy with hypoactivity of neonatal onset and profound developmental delayNeuropathology200727214514917494516
  • DaishPWheelerEMRobertsPFJonesRDMenkes syndrome: report of a patient treated from 21 days of age with parenteral copperArch Dis Child19785312956958747401
  • SasakiGIshiiTSatoSMultiple polypoid masses in the gastrointestinal tract in patient with Menkes disease on copper- histidinate therapyEur J Pediatr20041631274574615480778
  • OkadaTSasakiFHondaSMiyagiHKubotaMTodoSMenkes disease with gastroesophageal reflux disease and successful surgical treatment: a case report and literatureTurk J Pediatr201052333333520718197
  • ShiiharaTKatoMHonmaTProgressive sliding hiatal hernia as a complication of Menkes’ syndromeJ Child Neurol200217540140212150594
  • SartorisDJLuzzattiLWeaverDDMacfarlaneJDHollisterDWParkerBRType IX Ehlers-Danlos syndrome. A new variant with pathognomonic radiographic featuresRadiology198415236656706463246
  • KalerSGWestmanJABernesSMGastrointestinal hemorrhage associated with gastric polyps in Menkes diseaseJ Pediatr1993122193958419622
  • JeongGUChoAHwangHA case of Menkes disease with unusual hepatomegalyKorean J Pediatr2008515538541
  • RoycePMSteinmannBMarkedly reduced activity of lysyl oxidase in skin and aorta from a patient with Menkes disease showing unusually severe connective tissue manifestationsPediatr Res19902821371411975662
  • RoycePMCamakarisJDanksDMReduced lysyl oxidase activity in skin fibroblast from patients with Menkes syndromeBiochem J198019225795866112984
  • MenkesJHKinky hair disease: twenty five years laterBrain Dev198810277792839049
  • MenkesJHKinky hair diseasePediatrics19725021811835045346
  • GroverWDJohnsonWCHenkinRIClinical and biochemical aspects of trichopoliodystrophyAnn Neurol1979516571426469
  • SmithVVAndersonGMaloneMSebireNJLight microscopic examination of scalp hair samples as an aid in the diagnosis of pediatric disorders: retrospective review of more than 300 cases from a single centreJ Clin Pathol200558121294129816311350
  • WhitingDAStructural abnormalities of the hair shaftJ Am Acad Dermatol1987161 pt 11253805378
  • KalerSGDiagnosis and therapy of Menkes syndrome, a genetic form of copper deficiencyAm J Clin Nutr199867suppl 5S1029S1034
  • KalerSGHolmesCSGoldsteinDSDopamine beta-hydroxylase deficiency associated with mutations in a copper transporter geneAdv Pharmacol19984266689327848
  • RobainOAubourgPRoutonMCDulacOPonsotGMenkes disease: a Golgi and electron microscopic study of the cerebellar cortexClin Neuropathol19887247523390973
  • BinduPSTalyABKothariSElectro-clinical features and magnetic resonance imaging correlates in Menkes diseaseBrain Dev201335539840522921468
  • Bahi-BuissonNKaminskaANabboutREpilepsy in Menkes disease: analysis of clinical stagesEpilepsia200647238038616499764
  • JayawantSHalpinSWallaceSGMenkes kinky hair disease: an unusual caseEur J Pediatr Neurol200043131134
  • FriedmanETHardenAKoivikkoMPampiglioneGMenkes’disease: neurophysiological aspectsJ Neurol Neurosurg Psychiatry197841650551097372
  • WhiteSRReeseKSatoSKalerSGSpectrum of EEG findings in Menkes diseaseElectroencephalogr Clin Neurophysiol199387157617687955
  • KalerSGHolmesCSGoldsteinDSNeonatal diagnosis and treatment of Menkes diseaseN Engl J Med2008358660561418256395
  • BarnardROBestPVErdohaziMNeuropathology of Menkes’ diseaseDev Med Child Neurol1978205586597729906
  • OkedaRGeiSChenIOkaniwaMShinomiyaMMatsubaraOMenkes’ kinky hair disease: morphological and immunohistochemical comparison of two autopsied patientsActa Neuropathol19918144504572028748
  • ProudVKMussellHGKalerSGYoungDWPercyAKDistinctive Menkes disease variant with occipital horns: delineation of natural history and clinical phenotypeAm J Med Genet199665144518914740
  • HermanTEMcAlisterWHBonifaceAWhyteMPOccipital horn syndromePediatr Radiol19922253633651408447
  • DanksDMThe mild form of Menkes disease: progress report on the original caseAm J Med Genet19883038598643189408
  • GerdesAMTønnesenTPergamentEVariability in clinical expression of Menkes syndromeEur J Pediatr198814221321353234433
  • WestmanJARichardsonDCRennertOMMorrowG3rdAtypical Menkes steely hair diseaseAm J Med Genet19983038538583189407
  • MøllerLBMogensenMHornNMolecular diagnosis of Menkes disease: genotype-phenotype correlationBiochimie200991101273127719501626
  • TümerZLundCTolshaveJVuralBTønnesenTHornNIdentification of point mutations in 41 unrelated patients affected with Menkes diseaseAm J Hum Genet199760163718981948
  • DasSLevinsonBWhitneySVulpeCPackmanSGitschierJDiverse mutations in patients with Menkes disease often lead to exon skippingAm J Hum Genet19945558838897977350
  • KalerSGGahlWABerrySAHolmesCSGoldsteinDSPredictive value of plasma catecholamine levels in neonatal detection of Menkes diseaseJ Inherit Metab Dis19931659079088295415
  • KalerSGTumerZPrenatal diagnosis of Menkes diseasePrenat Diagn19981832872899556046
  • TønnesenTGerdesAMDamsgaardEFirst-trimester diagnosis of Menkes disease: intermediate copper values in chorionic villi from three affected male fetusesPrenat Diagn1989931591652710742
  • VonkWIWijmengaCvan de SluisBRelevance of animal models for understanding mammalian copper homeostasisAm J Clin Nutr200888suppl 3S840S845
  • LenartowiczMKrzeptowskiWLipinskiPMottled mice and non-mammalian models of Menkes diseaseFront Mol Neurosci201587226732058
  • FraserASNayTGrowth of the mouse coat. II. Effect of sex and pregnancyAust J Biol Sci19536464565613126043
  • HuntDMPrimary defect in copper transport underlies mottled mutants in the mouseNature19742494608528544858102
  • TanakaKKobayashiKFujitaYFukuharaCOnosakaSMinKEffects of chelators on copper therapy of macular mouse, a model animal of Menkes’ kinky diseaseRes Commun Chem Pathol Pharmacol19906922172272396048
  • KodamaHSatoEGuYHShigaKFujisawaCKozumaTEffect of copper and diethyldithiocarbamate combination therapy on the macular mouse, an animal model of Menkes diseaseJ Inherit Metab Dis200528697197816435190
  • LenartowiczMKrzeptowskiWKotejaPChrzascikKMollerLBPrenatal treatment of mosaic mice (Atp7a mo-ms) mouse model for Menkes disease, with copper combined by dimethyldithiocarbamate (DMDTC)PLoS One201277e4040022815746
  • MendelsohnBAYinCJohnsonSLWilmTPSolnica-KrezelLGitlinJDAtp7a determines a hierarchy of copper metabolism essential for notochord developmentCell Metab20064215516216890543
  • MadsenECMorcosPAMendelsohnBAGitlinJDIn vivo correction of a Menkes disease model using antisense oligonucleotidesProc Natl Acad Sci U S A2008105103909391418316734
  • NorgateMLeeESouthonAEssential roles in development and pigmentation for the Drosophila copper transporter DmATP7Mol Biol Cell200617147548416251357
  • BahadoraniSBahadoraniPMarconEWalkerDWHillikerAJA Drosophila model of Menkes disease reveals a role for DmATP7 in copper absorption and neurodevelopmentDis Model Mech201031–2849120038716
  • StaphanedeAGiorgiMAttilakosAPapadopoulosJTsiroudaMDinopoulosALate onset treatment on Menkes disease with a novel single nucleotide deletion in the ATP7A geneEur J Pediatr Neurol201519S121
  • TchanMCWilchenBChristodoulouJThe mild form of Menkes disease: a 34 year progress report on the original caseJIMD Rep20139818423430551
  • SanderCNiederhoffHHornNLife-span and Menkes kinky hair syndrome: report of a 13- year course of this diseaseClin Genet19883332282333359680
  • KalerSGDasSLevinsonBSuccessful early copper therapy in Menkes disease associated with a mutant transcript containing a small in-frame deletionBiochem Mol Med199657137468812725
  • ChristodoulouJDanksDMSarkarBEarly treatment of MD with parenteral copper -histidine: long-term follow-up of four treated patientsAm J Med Genet19987621541649511979
  • KalerSGNeurodevelopment and brain growth in classic MD is influenced by age and symptomatology at initiation of copper treatmentJ Trace Elem Med Biol201428442743025281031
  • PrasadANLevinSRuparCAPrasadCMenkes disease and infantile epilepsyBrain Dev2011331086687621924848
  • TangJDonsanteADesaiVPatronasNKalerSGClinical outcomes in Menkes disease patients with a copper-responsive ATP7A mutation, G727RMol Genet Metab200895317418118752978
  • SherwoodGSarkarBKortsakASCopper histidinate therapy in Menkes’ disease: prevention of progressive neurodegenerationJ Inherit Metab Dis19891223933962512453
  • KalerSGMenkes disease mutations and response to early copper histidine treatmentNat Genet199613121228673098
  • NassogneM-CSharradMHertz-PannierLMassive subdural haematomas in Menkes disease mimicking shaken baby syndromeChilds Nerv Syst2002181272973112483361
  • JainPSharmaSSankhyanNMacrocephaly with diffuse white matter changes simulating a leukodystrophy in Menkes diseaseIndian J Pediatr201380216016222700386
  • SahaSMridhaDAn unusual cause for focal convulsions: Menkes kinky hair diseaseJ Pediatr Neurol20131102123125