1,537 results match your criteria Menkes Disease


Menkes disease, a diagnosis to consider in case of severe epilepsy with hyperlactacidemia: a case report.

Ann Biol Clin (Paris) 2020 Jul 6. Epub 2020 Jul 6.

Département de biochimie et hormonologie, CHU Montpellier, France, PhyMedExp, Université de Montpellier (UM), Inserm, CNRS, Montpellier, France.

Menkes disease is an X-linked recessive disorder affecting copper metabolism due to an inactivating mutation of ATP7A gene. This result in loss of copper intestinal absorption, tissue deficiency and failure in multiple essential copper-enzyme systems such as the cytochrome c oxidase. Symptoms usually occur during the first months of life with neurological signs such as epilepsy associated to other signs among them typical hair appearance. Read More

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http://dx.doi.org/10.1684/abc.2020.1566DOI Listing

Cancer Pro-oxidant Therapy Through Copper Redox Cycling: Repurposing Disulfiram and Tetrathiomolybdate.

Authors:
Manuel Rieber

Curr Pharm Des 2020 Jun 27. Epub 2020 Jun 27.

IVIC, Cancer Cell Biology Laboratory, CMBC, Caracas 1020A. Venezuela.

Background: Copper (Cu) is a transition metal active in Fenton redox cycling from reduced Cu+ and H2O2, to oxidized Cu2+ and the hydroxyl radical (∙OH) highly reactive oxygen species (ROS). At homeostatic Cu levels, ROS promote cell proliferation, migration, angiogenesis, and wound repair. To limit ROS toxicity, cells use Cu-dependent chaperone proteins, Cu-binding ceruloplasmin, and Cu-modulated enzymes like superoxide dismutases (SOD) like SOD1 and SOD3 to scavenge excess superoxide anion which favours Cu+ reduction, and mitochondrial cytochrome c oxidase, important in aerobic energy production. Read More

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http://dx.doi.org/10.2174/1381612826666200628022113DOI Listing

Low function of natural killer cells in treated classic Menkes disease.

Turk J Pediatr 2020 ;62(3):498-500

Division of Pediatric Neurology, University of South Alabama Children's and Women's Hospital, Mobile, Alabama.

Background: Menkes disease (MD) is a rare lethal X-linked, multisystem disorder of copper metabolism resulting from mutations in the ATP7A gene. Features such as Ehlers- Danlos syndrome, trichopoliodystrophy, urologic and skeletal changes have been reported. We present a case of classic MD treated with copper infusions who suffered from persistent natural killer (NK) cell dysfunction. Read More

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http://dx.doi.org/10.24953/turkjped.2020.03.021DOI Listing
January 2020

Estimated birth prevalence of Menkes disease and ATP7A-related disorders based on the Genome Aggregation Database (gnomAD).

Mol Genet Metab Rep 2020 Sep 5;24:100602. Epub 2020 Jun 5.

Cyprium Therapeutics, Inc. 2 Gansevoort Street, 9th Floor, New York, NY 10014, United States.

Background: Previous estimates of the prevalence of Menkes disease, a lethal X-linked recessive disorder of copper metabolism, were based on confirmed clinical cases ascertained from specific populations and varied from 1 in 40,000 to 1 in 354,507. With newly available population-based allelic frequencies of DNA sequence variants, the expected birth prevalence of Menkes disease and other -related phenotypes can be reconsidered using Hardy-Weinberg theoretical principles.

Methods: We reviewed the canonical transcript in the current version of gnomAD (v2. Read More

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http://dx.doi.org/10.1016/j.ymgmr.2020.100602DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7283148PMC
September 2020

Zinc Monotherapy as an Alternative Treatment Option for Decompensated Liver Disease due to Wilson Disease?

Case Reports Hepatol 2020 14;2020:1275940. Epub 2020 Jan 14.

Mekelle University, College of Health Science, Clinical Pharmacist, Tigray, Ethiopia.

Background: Wilson disease is a rare metabolic disorder involving copper metabolism, and patients may present with a variable degree of hepatic, neurologic, and psychiatric manifestations. In the case of hepatic presentation, treatment is usually initiated with potentially toxic copper chelators (D-penicillamine or Trenton). Although zinc is of low toxicity and low cost for treatment of Wilson disease, it has been limited to the adjunctive as a single maintenance drug or for asymptomatic patients. Read More

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http://dx.doi.org/10.1155/2020/1275940DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7201455PMC
January 2020

The molecular mechanisms of copper metabolism and its roles in human diseases.

Pflugers Arch 2020 Jun 7. Epub 2020 Jun 7.

Center of Growth, Metabolism and Aging, Key Laboratory of Biological Resources and Ecological Environment of Ministry of Education, College of Life Sciences, Sichuan University, Chengdu, 610065, China.

Copper is an essential element in cells; it can act as either a recipient or a donor of electrons, participating in various reactions. However, an excess of copper ions in cells is detrimental as these copper ions can generate free radicals and increase oxidative stress. In multicellular organisms, copper metabolism involves uptake, distribution, sequestration, and excretion, at both the cellular and systemic levels. Read More

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http://dx.doi.org/10.1007/s00424-020-02412-2DOI Listing

Visual Dermatology: Menkes Disease.

J Cutan Med Surg 2020 Jun 5:1203475420932516. Epub 2020 Jun 5.

16330 Dermatology Department, Hospital Regional Universitario de Málaga, Plaza Hospital Civil, Spain.

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http://dx.doi.org/10.1177/1203475420932516DOI Listing

An Unusual Presentation of Menkes Disease Masquerading as a Leukodystrophy with Macrocephaly.

J Pediatr Neurosci 2020 Jan-Mar;15(1):57-59. Epub 2020 Mar 18.

Department of Pediatrics, Lady Hardinge Medical College, Kalawati Saran Children's Hospital, New Delhi, India.

Background: Menkes disease is an X-linked neurodegenerative disease caused by mutation in gene, which codes for copper-transporting ATPase. It usually presents in early infancy with neuro-regression, hypotonia, seizures, and kinky hair. Magnetic resonance imaging (MRI) of the brain shows cerebral atrophy, subdural effusions, and tortuous cerebral blood vessels. Read More

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http://dx.doi.org/10.4103/JPN.JPN_141_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7227752PMC

Rare Genetic Diseases: Nature's Experiments on Human Development.

iScience 2020 May 1;23(5):101123. Epub 2020 May 1.

Department of Cell Biology, Emory University, Atlanta, GA 30322, USA. Electronic address:

Rare genetic diseases are the result of a continuous forward genetic screen that nature is conducting on humans. Here, we present epistemological and systems biology arguments highlighting the importance of studying these rare genetic diseases. We contend that the expanding catalog of mutations in ∼4,000 genes, which cause ∼6,500 diseases and their annotated phenotypes, offer a wide landscape for discovering fundamental mechanisms required for human development and involved in common diseases. Read More

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http://dx.doi.org/10.1016/j.isci.2020.101123DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7229282PMC

Elesclomol alleviates Menkes pathology and mortality by escorting Cu to cuproenzymes in mice.

Science 2020 05;368(6491):620-625

Department of Biochemistry and Biophysics, Texas A&M University, College Station, TX 77843, USA.

Loss-of-function mutations in the copper (Cu) transporter ATP7A cause Menkes disease. Menkes is an infantile, fatal, hereditary copper-deficiency disorder that is characterized by progressive neurological injury culminating in death, typically by 3 years of age. Severe copper deficiency leads to multiple pathologies, including impaired energy generation caused by cytochrome c oxidase dysfunction in the mitochondria. Read More

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http://dx.doi.org/10.1126/science.aaz8899DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7304446PMC

Sending copper where it is needed most.

Science 2020 05;368(6491):584-585

Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.

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http://dx.doi.org/10.1126/science.abb6662DOI Listing

Neck masses due to internal jugular vein phlebectasia: Frequency in Menkes disease and literature review of 85 pediatric subjects.

Am J Med Genet A 2020 06 15;182(6):1364-1377. Epub 2020 Apr 15.

Section on Translational Neuroscience, Molecular Medicine Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland, USA.

Classic Menkes disease is a rare X-linked recessive disorder of copper metabolism caused by pathogenic variants in the copper transporter gene, ATP7A. Untreated affected individuals suffer failure to thrive and neurodevelopmental delays that begin at 6-8 weeks of age and progress inexorably to death, often within 3 years. Subcutaneous injections of Copper Histidinate (US Food and Drug Administration IND #34,166, Orphan product designation #12-3663) are associated with improved survival and neurological outcomes, especially when commenced within a month of birth. Read More

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http://dx.doi.org/10.1002/ajmg.a.61572DOI Listing

Functional analyses of copper transporter genes in the human liver cell line HepG2.

Toxicol In Vitro 2020 Aug 9;66:104856. Epub 2020 Apr 9.

School of Life Sciences, The Chinese University of Hong Kong, Sha Tin, N.T., Hong Kong. Electronic address:

Copper (Cu) is an essential element regulated by four genes (hCTR1, hATOX1, hATP7A, and hATP7B in humans and zctr1, zatox1, zatp7a, and zatp7b in zebrafish) in copper uptake, distribution, and transport in animal cells. Zebrafish (Danio rerio) shows a higher endogenous ratio of zatp7a to zatp7b in the liver, is relatively intolerant to copper ions and has a different zatp7a and zatp7b expression patterns in different organs. As high-affinity copper transporters, both zctr1 and hCTR1 increased copper toxicity, whereas hATOX1 and zatox1 slightly reduced copper toxicity in HepG2 cells after copper administration for 24 h. Read More

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http://dx.doi.org/10.1016/j.tiv.2020.104856DOI Listing

[Genetic analysis of a male infant with Menkes disease].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 Apr;37(4):479-482

Department of Children's Healthcare, Fujian Provincial Maternity and Children's Hospital, the Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian 350001, China.

Objective: To carry out genetic testing for a male infant suspected for Menkes disease.

Methods: Genomic DNA of the proband and his parents were extracted and subjected to family trio whole exome sequencing (WES). Microduplication and microdeletion of the ATP7A gene were detected by multiplex ligation-dependent probe amplification (MLPA). Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2020.04.029DOI Listing

Reduced Neutrophil Extracellular Trap (NET) Formation During Systemic Inflammation in Mice With Menkes Disease and Wilson Disease: Copper Requirement for NET Release.

Front Immunol 2019 15;10:3021. Epub 2020 Jan 15.

Department of Experimental Hematology, Institute of Zoology and Biomedical Research, Jagiellonian University, Kraków, Poland.

Neutrophil extracellular traps (NETs) contribute to pathological disorders, and their release was directly linked to numerous diseases. With intravital microscopy (IVM), we showed previously that NETs also contribute to the pathology of systemic inflammation and are strongly deposited in liver sinusoids. Over a decade since NET discovery, still not much is known about the metabolic or microenvironmental aspects of their formation. Read More

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http://dx.doi.org/10.3389/fimmu.2019.03021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6974625PMC
January 2020

Modelling of Risk Factors Associated with Foodborne Disease among School-Aged Children in Medan, Indonesia.

Open Access Maced J Med Sci 2019 Oct 12;7(19):3302-3306. Epub 2019 Oct 12.

Faculty of Medicine, Universitas Sumatera Utara, Medan, Indonesia.

Background: Foodborne disease (FBD) contributes several outbreaks worsening health quality of world population. Many risk factors associated with FBD are related to its processing, preparation, and storage as well as handling practice.

Aim: The study aimed to evaluate several proposed risk factors of foodborne disease existed among school-aged children and food-handlers in the school environment. Read More

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http://dx.doi.org/10.3889/oamjms.2019.721DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6953940PMC
October 2019

Salen-based bifunctional chemosensor for copper (II) ions: Inhibition of copper-induced amyloid-β aggregation.

Anal Chim Acta 2020 Feb 12;1097:144-152. Epub 2019 Nov 12.

Molecular Imaging Laboratory, Athinoula A. Martinos Center for Biomedical Imaging, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 01890, USA.

Disruption of copper homeostasis is associated with a number of severe diseases including Alzheimer's disease (AD), Parkinson's disease (PD), Wilson's disease, and Menkes syndrome. Given this association, the detection and capture of Cu in biological fluids and tissues may provide a new direction for the diagnosis and treatment of related disorders. The current analytical approaches, however, are challenging due to the high cost, complexity, and long time required to prepare and analyze samples. Read More

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http://dx.doi.org/10.1016/j.aca.2019.10.072DOI Listing
February 2020

Osseous Metaplasia in a Bladder Diverticulum in a Patient with Mosaic Menkes Disease.

Urology 2020 Feb 20;136:238-240. Epub 2019 Nov 20.

Department of Pediatric Urology, Seattle Children's Hospital, Seattle, WA; Department of Urology, University of Washington, Seattle, WA.

Menkes disease, or Kinky Hair Syndrome, is a rare disorder of copper metabolism that causes fatal neurodegenerative disease in infancy. This X-linked disorder results from mutations in the ATP7A gene. Along with neurological decline, characteristic coarse appearance of the hair is seen. Read More

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http://dx.doi.org/10.1016/j.urology.2019.10.024DOI Listing
February 2020

Copper and the brain noradrenergic system.

J Biol Inorg Chem 2019 12 5;24(8):1179-1188. Epub 2019 Nov 5.

Department of Physiology, Johns Hopkins Medical Institutes, 725 N Wolfe St, Baltimore, MD, 21205, USA.

Copper (Cu) plays an essential role in the development and function of the brain. In humans, genetic disorders of Cu metabolism may cause either severe Cu deficiency (Menkes disease) or excessive Cu accumulation (Wilson disease) in the brain tissue. In either case, the loss of Cu homeostasis results in catecholamine misbalance, abnormal myelination of neurons, loss of normal brain architecture, and a spectrum of neurologic and/or psychiatric manifestations. Read More

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http://dx.doi.org/10.1007/s00775-019-01737-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6941745PMC
December 2019

Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome.

Am J Hum Genet 2019 11 17;105(5):1016-1022. Epub 2019 Oct 17.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia. Electronic address:

MEDNIK syndrome (mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma) is an autosomal-recessive disorder caused by bi-allelic mutations in AP1S1, encoding the small σ subunit of the AP-1 complex. Central to the pathogenesis of MEDNIK syndrome is abnormal AP-1-mediated trafficking of copper transporters; this abnormal trafficking results in a hybrid phenotype combining the copper-deficiency-related characteristics of Menkes disease and the copper-toxicity-related characteristics of Wilson disease. We describe three individuals from two unrelated families in whom a MEDNIK-like phenotype segregates with two homozygous null variants in AP1B1, encoding the large β subunit of the AP-1 complex. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00029297193036
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http://dx.doi.org/10.1016/j.ajhg.2019.09.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6848991PMC
November 2019
3 Reads
10.931 Impact Factor

Report of a novel ATP7A mutation causing distal motor neuropathy.

Neuromuscul Disord 2019 10 23;29(10):776-785. Epub 2019 Aug 23.

Department of Medical Sciences, Section of Medical Genetics, University of Ferrara - Unit of Medical Genetics - University Hospital, Via Fossato di Mortara, 74, 44121 Ferrara, Italy. Electronic address:

We describe a novel ATP7A gene mutation associated with distal motor neuropathy, mild connective tissue abnormalities and autonomic disturbances. Next-generation sequencing analysis of a lower-motor neuron diseases gene panel was performed in two sibs presenting with distal motor neuropathy plus an autonomic dysfunction, which main manifestations were retrograde ejaculation, diarrhea and hyperhydrosis. Probands underwent dysmorphological, neurological, electrophysiological as well as biochemical evaluations and somatic and autonomic innervation studies on skin biopsies. Read More

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http://dx.doi.org/10.1016/j.nmd.2019.08.008DOI Listing
October 2019
2 Reads

Copper Transporter ATP7A (Copper-Transporting P-Type ATPase/Menkes ATPase) Limits Vascular Inflammation and Aortic Aneurysm Development: Role of MicroRNA-125b.

Arterioscler Thromb Vasc Biol 2019 11 26;39(11):2320-2337. Epub 2019 Sep 26.

From the Vascular Biology Center (V.S., A.D., T.H., D.A., S.L., B.S., G.C., D.F., N.L.W., H.W.K., M.U.-F., T.F.), Medical College of Georgia at Augusta University, GA.

Objective: Copper (Cu) is essential micronutrient, and its dysregulation is implicated in aortic aneurysm (AA) development. The Cu exporter ATP7A (copper-transporting P-type ATPase/Menkes ATPase) delivers Cu via the Cu chaperone Atox1 (antioxidant 1) to secretory Cu enzymes, such as lysyl oxidase, and excludes excess Cu. Lysyl oxidase is shown to protect against AA formation. Read More

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http://dx.doi.org/10.1161/ATVBAHA.119.313374DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6857803PMC
November 2019
2 Reads
6.000 Impact Factor

Wormian Bones and Dilated Scalp Veins in an Infant With Epilepsy.

J Pediatr Neurosci 2019 Apr-Jun;14(2):103-104

Department of Paediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

A three-months boy presented with recurrent seizures. On examination, he was fair, had dilated scalp veins, sparse hypopigmented hair, and was hypotonic. X-ray of the skull showed wormian bones. Read More

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http://dx.doi.org/10.4103/jpn.JPN_151_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6712920PMC
September 2019
1 Read

Animal Models of Normal and Disturbed Iron and Copper Metabolism.

J Nutr 2019 12;149(12):2085-2100

Food Science and Human Nutrition Department, University of Florida, Gainesville, FL, USA.

Research on the interplay between iron and copper metabolism in humans began to flourish in the mid-20th century, and diseases associated with dysregulated homeostasis of these essential trace minerals are common even today. Iron deficiency is the most frequent cause of anemia worldwide, leading to significant morbidity, particularly in developing countries. Iron overload is also quite common, usually being the result of genetic mutations which lead to inappropriate expression of the iron-regulatory hormone hepcidin. Read More

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https://academic.oup.com/jn/advance-article/doi/10.1093/jn/n
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http://dx.doi.org/10.1093/jn/nxz172DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6887953PMC
December 2019
3 Reads

Adipocyte-specific disruption of ATPase copper transporting α in mice accelerates lipoatrophy.

Diabetologia 2019 12 8;62(12):2340-2353. Epub 2019 Aug 8.

State Key Laboratory of Animal Nutrition, Institute of Animal Science, Chinese Academy of Agricultural Sciences, Beijing, People's Republic of China, 100193.

Aims/hypothesis: ATPase copper transporting α (ATP7A), also known as Menkes disease protein, is a P-type ATPase that transports copper across cell membranes. The critical role of ATP7A-mediated copper homeostasis has been well recognised in various organs, such as the intestine, macrophages and the nervous system. However, the importance of adipocyte ATP7A-mediated copper homeostasis on fat metabolism is not well understood. Read More

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http://dx.doi.org/10.1007/s00125-019-4966-2DOI Listing
December 2019
3 Reads

Mechanistic and Structural Basis for Inhibition of Copper Trafficking by Platinum Anticancer Drugs.

J Am Chem Soc 2019 07 19;141(30):12109-12120. Epub 2019 Jul 19.

Department of Chemistry , University of Bari "Aldo Moro" , via Orabona, 4 , 70125 Bari , Italy.

Copper (Cu) is required for maturation of cuproenzymes, cell proliferation, and angiogenesis, and its transport entails highly specific protein-protein interactions. In humans, the Cu chaperone Atox1 mediates Cu(I) delivery to P-type ATPases Atp7a and Atp7b (the Menkes and Wilson disease proteins, respectively), which are responsible for Cu release to the secretory pathway and excess Cu efflux. Cu(I) handover is believed to occur through the formation of three-coordinate intermediates where the metal ion is simultaneously linked to Atox1 and to a soluble domain of Cu-ATPases, both sharing a CxxC dithiol motif. Read More

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http://dx.doi.org/10.1021/jacs.9b05550DOI Listing
July 2019
1 Read

A severe case of Menkes disease with repeated bone fracture during the neonatal period, followed by multiple arterial occlusion.

Brain Dev 2019 Nov 3;41(10):878-882. Epub 2019 Jul 3.

Department of Pediatrics, Nagoya City West Medical Center, Nagoya, Japan.

Menkes disease (MD) is a lethal infantile neurodegenerative disorder with X-linked inheritance, characterized by progressive neurodegenerative symptoms caused by pathogenic variants in the ATP7A. Early diagnosis and treatment are important, although the diagnosis is difficult prior to 2 months of age. We present an unusually severe case of MD with skull fractures at the birth and repeated fractures during the neonatal period, with further examinations leading to diagnosis. Read More

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http://dx.doi.org/10.1016/j.braindev.2019.06.005DOI Listing
November 2019
6 Reads

Menkes disease complicated by concurrent Koolen-de Vries syndrome (17q21.31 deletion).

Mol Genet Genomic Med 2019 08 28;7(8):e829. Epub 2019 Jun 28.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.

Background: Koolen-de Vries (KdV) syndrome is caused by a 17q21.31 deletion leading to clinical symptoms of hypotonia and developmental delay and can present with abnormal hair texture. Menkes disease is an X-linked recessive inherited disease caused by pathogenic variants in ATP7A, which leads to profound copper deficiency. Read More

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http://dx.doi.org/10.1002/mgg3.829DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687649PMC
August 2019
7 Reads

Copper Deficiency: Causes, Manifestations, and Treatment.

Nutr Clin Pract 2019 Aug 17;34(4):504-513. Epub 2019 Jun 17.

Adult Intensive Care and Burn Unit, Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland.

Background: The metabolism of the essential trace element copper remains incompletely understood and, until recently, nearly ignored in acute medicine. Menkes disease was for long the only known copper deficiency condition, but several case reports and investigations conducted over the last 2 decades have shown that deficiency is more frequent than previously suspected, with devastating individual consequences and potential public health consequences. The copper needs in healthy individuals are 0. Read More

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http://dx.doi.org/10.1002/ncp.10328DOI Listing
August 2019
11 Reads

Imaging findings of Menkes disease, a radiographic mimic of abusive trauma.

Radiol Case Rep 2019 Aug 6;14(8):993-996. Epub 2019 Jun 6.

Department of Radiology, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX 75390, USA.

Menkes disease is a rare X-linked recessive disorder caused by impaired copper absorption and transport. Presented here is a case of a 12-week-old male who presented with hypotonia and multiple metaphyseal fractures. Further imaging and workup revealed a diagnosis of Menkes disease. Read More

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http://dx.doi.org/10.1016/j.radcr.2019.05.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556522PMC
August 2019
3 Reads

Classification and differential diagnosis of Wilson's disease.

Authors:
Wieland Hermann

Ann Transl Med 2019 Apr;7(Suppl 2):S63

Department of Neurology, SRO AG Spital Langenthal, Langenthal, Switzerland.

Wilson's disease is characterized by hepatic and extrapyramidal movement disorders (EPS) with variable manifestation primarily between age 5 and 45. This variability often makes an early diagnosis difficult. A classification defines different clinical variants of Wilson's disease, which enables classifying the current clinical findings and making an early tentative diagnosis. Read More

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http://dx.doi.org/10.21037/atm.2019.02.07DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6531651PMC
April 2019
5 Reads

Ratiometric two-photon microscopy reveals attomolar copper buffering in normal and Menkes mutant cells.

Proc Natl Acad Sci U S A 2019 06 3;116(25):12167-12172. Epub 2019 Jun 3.

School of Chemistry and Biochemistry, Georgia Institute of Technology, Atlanta, GA 30332-0400;

Copper is controlled by a sophisticated network of transport and storage proteins within mammalian cells, yet its uptake and efflux occur with rapid kinetics. Present as Cu(I) within the reducing intracellular environment, the nature of this labile copper pool remains elusive. While glutathione is involved in copper homeostasis and has been assumed to buffer intracellular copper, we demonstrate with a ratiometric fluorescent indicator, crisp-17, that cytosolic Cu(I) levels are buffered to the vicinity of 1 aM, where negligible complexation by glutathione is expected. Read More

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http://dx.doi.org/10.1073/pnas.1900172116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6589653PMC
June 2019
26 Reads

Erratum: Correction of Error in Result: Urological Problems in Patients with Menkes Disease.

J Korean Med Sci 2019 May 27;34(20):e154. Epub 2019 May 27.

Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.

This corrects the article on e4 in vol. 1, PMID: 30618512. Read More

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http://dx.doi.org/10.3346/jkms.2019.34.e154DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6535402PMC
May 2019
5 Reads

Long surviving classical Menkes disease treated with weekly intravenous copper therapy.

J Trace Elem Med Biol 2019 Jul 1;54:172-174. Epub 2019 May 1.

Department of Pediatric Neurology, Fukuoka Children's Hospital, Fukuoka, Japan.

Menkes diseases (MD) is an X-linked recessive neurodegenerative disorder of copper metabolism, characterized by progressive multisystemic involvement. Death in the early childhood is usually observed in classical patients. Although a definite cure has not been established, copper replacement therapy administered parenterally may modify the severity of MD and permitted survival into adolescence. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S0946672X183061
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http://dx.doi.org/10.1016/j.jtemb.2019.04.020DOI Listing
July 2019
30 Reads

Neuropsychological functioning in early and chronic stages of schizophrenia and psychotic bipolar disorder.

Schizophr Res 2019 04 26;206:413-419. Epub 2018 Oct 26.

Department of Psychiatry and Behavioral Sciences, Vanderbilt University Medical Center, Nashville, TN, United States of America. Electronic address:

Background: Neuropsychological impairment is common in schizophrenia and psychotic bipolar disorder. It has been hypothesized that the pathways leading to impairment differ between disorders. Cognitive impairment in schizophrenia is believed to result largely from atypical neurodevelopment, whereas bipolar disorder is increasingly conceptualized as a neuroprogressive disorder. Read More

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http://dx.doi.org/10.1016/j.schres.2018.10.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6530584PMC
April 2019
3 Reads

Síntesis y uso de histidinato de cobre en niños con enfermedad de Menkes en México.

Gac Med Mex 2019 ;155(2):191-195

Secretaría de Salud, Centro Regional de Alta Especialidad de Chiapas, Hospital de Especialidades Pediátricas, Chiapas, México.

Menkes disease is a neurodegenerative and lethal pathology caused by gene mutations of the copper-transporting ATP-7A enzyme; it manifests itself by neurological symptoms and connective tissue changes of varying severity. Timely subcutaneous use of copper histidinate (Cu-His) is determinant for quality of life. We report the first experiences in Mexico on Cu-His synthesis and its safe use in 3 cases where hypocupremia and hypoceruloplasminemia were corroborated. Read More

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http://dx.doi.org/10.24875/GMM.18004310DOI Listing
November 2019
17 Reads

Fatal Exsanguination Following Rupture of an Iliac Artery Aneurysm in an Infant With Menkes Disease.

Pediatr Dev Pathol 2019 Oct 1;22(5):486-491. Epub 2019 Apr 1.

Department of Paediatric Surgery, John Hunter Children's Hospital, Newcastle, Australia.

Menkes disease (MD) usually presents in infancy with respiratory and neurological complications. Severe isolated vasculo-connective tissue involvement in infancy is rare, and hence the precise and timely diagnosis is difficult. We report a case of an 8-week-old male infant who succumbed to acute, severe exsanguination, and hemorrhagic shock secondary to a large retroperitoneal hematoma due to rupture of a right iliac artery aneurysm. Read More

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http://dx.doi.org/10.1177/1093526619841152DOI Listing
October 2019
20 Reads

Acquired Pili Torti.

JAMA Dermatol 2019 Apr;155(4):488

Division of Dermatology, The Ohio State University College of Medicine, Columbus.

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http://dx.doi.org/10.1001/jamadermatol.2018.4677DOI Listing
April 2019
1 Read

ATP7A mutations in 66 Japanese patients with Menkes disease and carrier detection: A gene analysis.

Pediatr Int 2019 Apr 16;61(4):345-350. Epub 2019 Apr 16.

Department of Physiology, Toho University School of Medicine, Tokyo, Japan.

Background: Menkes disease (MNK; MIN 309400) is an X-linked recessive lethal disorder of copper metabolism caused by mutations in ATP7A (MIM 300011), which encodes a transmembrane copper-transporting P-type ATPase. This study assessed mutations in ATP7A in Japanese patients with MNK and their families using gene analysis.

Methods: A total of 66 patients with MNK born between 1975 and 2013 in Japan were investigated in this study. Read More

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http://doi.wiley.com/10.1111/ped.13817
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http://dx.doi.org/10.1111/ped.13817DOI Listing
April 2019
20 Reads

Biological role of copper as an essential trace element in the human organism.

Ceska Slov Farm Winter 2018;67(4):143-153

This paper presents an overview of the physiological properties of copper (Cu), an essential trace element playing an important role in the human metabolism, primarily as a cofactor of many metalloenzymes. The maintenance of Cu homeostasis is required for proper functioning of the human body. However, when the disturbance of Cu homeostasis occurs, strong pathological manifestations may develop. Read More

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April 2019
9 Reads

Urological Problems in Patients with Menkes Disease.

J Korean Med Sci 2019 Jan 26;34(1):e4. Epub 2018 Dec 26.

Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.

Background: Menkes disease (MD) is a rare X-linked hereditary multisystemic disorder that is caused by dysfunction of copper metabolism. Patients with MD typically present with progressive neurodegeneration, some connective tissue abnormalities, and characteristic "kinky" hair. In addition, various types of urological complications are frequent in MD because of underlying connective tissue abnormalities. Read More

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https://synapse.koreamed.org/DOIx.php?id=10.3346/jkms.2019.3
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http://dx.doi.org/10.3346/jkms.2019.34.e4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6318444PMC
January 2019
36 Reads

Copper complexes for biomedical applications: Structural insights, antioxidant activity and neuron compatibility.

J Inorg Biochem 2019 03 26;192:87-97. Epub 2018 Dec 26.

Department of Chemistry, Université du Québec à Montréal, C.P. 8888, Succ. Centre-Ville, Montréal, Québec H3C 3P8, Canada; Research Chair in Enteric Dysfunctions "Allerdys", Centres Pharmaqam and CERMO-FC, Université du Québec à Montréal, C.P. 8888, Montréal, Québec H3C 3P8, Canada. Electronic address:

Copper coordinated with amino acid residues is essential for the function of many proteins. In addition, copper complexed to free l-Histidine, as [Cu(His)], is used in the treatment of the neurodegenerative Menkes disease and of cardioencephalomyopathy. This study was aimed to coordinate copper(II) with four small ligands (l-Serine, l-Histidine, Urea and Biuret) and to evaluate structural features, stability, antioxidant activity and neuronal compatibility of the resulting complexes. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S01620134183040
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http://dx.doi.org/10.1016/j.jinorgbio.2018.12.010DOI Listing
March 2019
32 Reads

A systematic review and evidence-based guideline for diagnosis and treatment of Menkes disease.

Mol Genet Metab 2019 01 11;126(1):6-13. Epub 2018 Dec 11.

Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Neurology Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Internal Medicine Department, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Postgraduate program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil. Electronic address:

Menkes disease is a rare X-linked neurodegenerative disorder caused by defect in copper metabolism. Parenteral copper supplementation has been used as a potential disease-modifying treatment of Menkes disease for decades. However, recent evidence suggests its efficacy only when treatment is started within days after birth, which also has important implications related to the techniques that enable early diagnosis. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183041
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http://dx.doi.org/10.1016/j.ymgme.2018.12.005DOI Listing
January 2019
48 Reads

Novel gene mutation in a patient with Menkes disease.

Appl Clin Genet 2018 22;11:151-155. Epub 2018 Nov 22.

Health Sciences Faculty, Universidad Icesi, Cali, Colombia,

Background: Menkes disease is a congenital neurodegenerative disorder caused by gene mutations. Clinical features include epilepsy, growth delay, reduced muscle strength, skin laxity, abnormal hair, and urologic abnormalities.

Case Presentation: We describe an infant with developmental delay, neurologic degeneration, and kinky hair. Read More

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http://dx.doi.org/10.2147/TACG.S180087DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6254535PMC
November 2018
32 Reads

Epilepsy and Neurodegeneration: Clues in the Hair and Blood Vessels!

J Pediatr 2019 Mar 24;206:293-293.e2. Epub 2018 Oct 24.

Department of Radio Diagnosis and Imaging Postgraduate Institute of Medical Education and Research Chandigarh, India.

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http://dx.doi.org/10.1016/j.jpeds.2018.09.069DOI Listing
March 2019
7 Reads
3.790 Impact Factor

Cu selective chelators relieve copper-induced oxidative stress .

Chem Sci 2018 Nov 2;9(41):7916-7930. Epub 2018 Oct 2.

Department of Chemical Sciences , Tata Institute of Fundamental Research , 1 Homi Bhabha Road, Colaba , Mumbai-400005 , India . Email:

Copper ions are essential for biological function yet are severely detrimental when present in excess. At the molecular level, copper ions catalyze the production of hydroxyl radicals that can irreversibly alter essential bio-molecules. Hence, selective copper chelators that can remove excess copper ions and alleviate oxidative stress will help assuage copper-overload diseases. Read More

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http://dx.doi.org/10.1039/c8sc04041aDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6202919PMC
November 2018
3 Reads

Predictable and precise template-free CRISPR editing of pathogenic variants.

Nature 2018 11 7;563(7733):646-651. Epub 2018 Nov 7.

Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.

Following Cas9 cleavage, DNA repair without a donor template is generally considered stochastic, heterogeneous and impractical beyond gene disruption. Here, we show that template-free Cas9 editing is predictable and capable of precise repair to a predicted genotype, enabling correction of disease-associated mutations in humans. We constructed a library of 2,000 Cas9 guide RNAs paired with DNA target sites and trained inDelphi, a machine learning model that predicts genotypes and frequencies of 1- to 60-base-pair deletions and 1-base-pair insertions with high accuracy (r = 0. Read More

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http://www.nature.com/articles/s41586-018-0686-x
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http://dx.doi.org/10.1038/s41586-018-0686-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6517069PMC
November 2018
123 Reads
42.351 Impact Factor

Chelating principles in Menkes and Wilson diseases: Choosing the right compounds in the right combinations at the right time.

J Inorg Biochem 2019 01 23;190:98-112. Epub 2018 Oct 23.

Innlandet Hospital, Norway; Inland Norway University of Applied Sciences, Elverum, Norway. Electronic address:

Dysregulation of copper homeostasis in humans is primarily found in two genetic diseases of copper transport, Menkes and Wilson diseases, which show symptoms of copper deficiency or overload, respectively. However, both diseases are copper storage disorders despite completely opposite clinical pictures. Clinically, Menkes disease is characterized by copper deficiency secondary to poor loading of copper-requiring enzymes although sufficient body copper. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S01620134183047
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http://dx.doi.org/10.1016/j.jinorgbio.2018.10.009DOI Listing
January 2019
35 Reads

ATP7A and ATP7B copper transporters have distinct functions in the regulation of neuronal dopamine-β-hydroxylase.

J Biol Chem 2018 12 19;293(52):20085-20098. Epub 2018 Oct 19.

From the Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205,

The copper (Cu) transporters ATPase copper-transporting alpha (ATP7A) and ATPase copper-transporting beta (ATP7B) are essential for the normal function of the mammalian central nervous system. Inactivation of ATP7A or ATP7B causes the severe neurological disorders, Menkes disease and Wilson disease, respectively. In both diseases, Cu imbalance is associated with abnormal levels of the catecholamine-type neurotransmitters dopamine and norepinephrine. Read More

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http://dx.doi.org/10.1074/jbc.RA118.004889DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6311498PMC
December 2018
6 Reads