1,589 results match your criteria Menkes Disease

Elesclomol elevates cellular and mitochondrial iron levels by delivering copper to the iron import machinery.

J Biol Chem 2022 Jun 14:102139. Epub 2022 Jun 14.

Department of Biochemistry and Biophysics, MS 3474, Texas A&M University, College Station, TX 77843, USA. Electronic address:

Copper (Cu) and iron (Fe) are redox-active metals that serve as cofactors for many essential cellular enzymes. Disruption in the intracellular homeostasis of these metals results in debilitating and frequently fatal human disorders, such as Menkes disease and Friedreich's ataxia. Recently, we reported that an investigational anticancer drug, elesclomol (ES), can deliver Cu to critical mitochondrial cuproenzymes and has the potential to be repurposed for treatment of Cu deficiency disorders. Read More

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Almost misdiagnosed Menkes disease: A case report.

Heliyon 2022 Apr 13;8(4):e09268. Epub 2022 Apr 13.

Department of Imaging Center, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China.

Background: Menkes disease is a disorder of copper metabolism and which follows a progressive degeneration of brain. It is a rare X-linked recessive disorder that results from mutations in ATP7A gene. The early diagnosis of Menkes disease is critical to patients' prognosis. Read More

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Oral Elesclomol Treatment Alleviates Copper Deficiency in Animal Models.

Front Cell Dev Biol 2022 1;10:856300. Epub 2022 Apr 1.

Department of Animal and Avian Sciences, University of Maryland, College Park, MD, United States.

Copper (Cu) is an essential trace element for key biochemical reactions. Dietary or genetic copper deficiencies are associated with anemia, cardiomyopathy, and neurodegeneration. The essential requirement for copper in humans is illustrated by Menkes disease, a fatal neurodegenerative disorder of early childhood caused by mutations in the ATP7A copper transporter. Read More

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Identification of a Novel Deep Intronic Variant by Whole Genome Sequencing Combined With RNA Sequencing in a Chinese Patient With Menkes Disease.

Front Genet 2022 31;13:852764. Epub 2022 Mar 31.

Tianjin Children's Hospital (Children's Hospital of Tianjin University), Tianjin, China.

Menkes disease (MD) is a rare X-linked connective tissue disorder of copper metabolism caused by pathogenic variant(s) in gene. The aim of the present study is to determine the clinical characteristics and molecular basis of one patient with MD. One 10-month-old Chinese boy who met the clinical manifestations of MD was enrolled in this study. Read More

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Copper-histidine therapy in an infant with novel splice-site variant in the gene of Menkes disease: the first experience in South East Asia and literature review.

BMJ Case Rep 2022 Apr 7;15(4). Epub 2022 Apr 7.

Pediatric Nutrition Research Unit, Division of Nutrition, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, The Thai Red Cross Society, Bangkok, Thailand

Menkes disease (MD) is an X linked recessive multi-systemic disorder of copper metabolism, resulting from an gene mutation. We report a male infant aged 4 months who presented with kinky hair, hypopigmented skin, epilepsy and delayed development. Magnetic resonance imaging (MRI) of brain demonstrated multiple tortuosities of intracranial vessels and brain atrophy. Read More

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Unraveling the invisible leptospirosis in mainland Southeast Asia and its fate under climate change.

Sci Total Environ 2022 Aug 4;832:155018. Epub 2022 Apr 4.

ESPACE-DEV, IRD, Univ Montpellier, Univ. Antilles, Univ Guyane, Univ Réunion, 5 Preah Monivong Blvd, Phnom Penh 12201, Cambodia.

Leptospirosis is a neglected waterborne zoonosis of growing concern in tropical and low-income regions. Endemic in Southeast Asia, its distribution and environmental factors such as climate controlling its dynamics remain poorly documented. In this paper, we investigate for the first time the current and future leptospirosis burden at a local scale in mainland Southeast Asia. Read More

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Critical Points in the Methodology of Preparing Copper (II) Histidinate Injections and their Quality Assessment Applying Color Measurement.

J Pharm Sci 2022 Mar 24. Epub 2022 Mar 24.

Chair and Department of Pharmaceutical Chemistry, Poznan University of Medical Sciences, Grunwaldzka 6, 60-780 Poznań, Poland. Electronic address:

Copper (II) histidinate injection solution, applied in Menkes disease treatment, is characterized by low stability due to sensitivity to oxidation. The aim of this article was to determine the critical points of the injection preparation procedure, taking into account selection of appropriate packaging, determining the solution pH or application of an excess of L-histidine. In order to assess the stability of the Cu(His) complex, the spectrophotometric method (VIS: 400-800 nm), and the colorimetric method using a reflectance colorimeter were applied. Read More

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Structure of the Wilson disease copper transporter ATP7B.

Sci Adv 2022 Mar 4;8(9):eabl5508. Epub 2022 Mar 4.

Department of Cell Biology and Physiology, Washington University School of Medicine, St. Louis, MO 63110, USA.

ATP7A and ATP7B, two homologous copper-transporting P1B-type ATPases, play crucial roles in cellular copper homeostasis, and mutations cause Menkes and Wilson diseases, respectively. ATP7A/B contains a P-type ATPase core consisting of a membrane transport domain and three cytoplasmic domains, the A, P, and N domains, and a unique amino terminus comprising six consecutive metal-binding domains. Here, we present a cryo-electron microscopy structure of frog ATP7B in a copper-free state. Read More

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Early clinical signs and treatment of Menkes disease.

Mol Genet Metab Rep 2022 Jun 17;31:100849. Epub 2022 Feb 17.

Unit of Regenerative Diseases Research, Division of Research Promotion and Development, Advanced Medical Research Center, Toho University Graduate School of Medicine, Ota-ku, Tokyo 143-8540, Japan.

Menkes disease (MD) is an X-linked recessive disorder caused by mutations in . Patients with MD exhibit severe neurological and connective tissue disorders due to copper deficiency and typically die before 3 years of age. Early treatment with copper injections during the neonatal period, before the occurrence of neurological symptoms, can alleviate neurological disturbances to some degree. Read More

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Abnormal Development of Neural Stem Cell Niche in the Dentate Gyrus of Menkes Disease.

Int J Stem Cells 2022 Feb 28. Epub 2022 Feb 28.

Cell Therapy Research Center, GC Cell, Yongin, Korea.

Background And Objectives: Menkes disease (MNK) is a rare X-linked recessive disease, caused by mutations in the copper transporting ATP7A gene that is required for copper homeostasis. MNK patients experience various clinical symptoms including neurological defects that are closely related to the prognosis of MNK patients. Neural stem cells (NSCs) in the hippocampal dentate gyrus (DG) produce new neurons throughout life, and defects in DG neurogenesis are often correlated with cognitive and behavioral problems. Read More

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February 2022

Menkes Disease: Clinical Presentation and Imaging Characteristics.

Neuropediatrics 2022 Feb 4. Epub 2022 Feb 4.

Division of Neurology, Departments of Neurology and Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States.

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February 2022

Usefulness of Trichoscopy over Hair Light Microscopy in Menkes Disease.

Skin Appendage Disord 2022 Jan 2;8(1):57-60. Epub 2021 Sep 2.

Dermatology Department, Instituto Nacional de Pediatría, Mexico City, Mexico.

Menkes disease (MD) is a rare X-linked recessive neurodegenerative disorder caused by mutations in the gene, with a high mortality rate within the first 3 years of life. It typically affects males and is characterized by impaired copper distribution and malfunction of several copper-dependent enzymes. Patients develop progressive muscle hypotonia associated with neurological damage and hair shaft dysplasia - particularly pili torti. Read More

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January 2022

Modeling present and future climate risk of dengue outbreak, a case study in New Caledonia.

Environ Health 2022 01 20;21(1):20. Epub 2022 Jan 20.

UMR ENTROPIE (IRD, Université de la Réunion, CNRS, Ifremer, Université de la Nouvelle-Calédonie), Nouméa, New Caledonia.

Background: Dengue dynamics result from the complex interactions between the virus, the host and the vector, all being under the influence of the environment. Several studies explored the link between weather and dengue dynamics and some investigated the impact of climate change on these dynamics. Most attempted to predict incidence rate at a country scale or assess the environmental suitability at a global or regional scale. Read More

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January 2022

Menkes Disease.

Arch Iran Med 2021 12 1;24(12):919-920. Epub 2021 Dec 1.

Pathology Department, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.

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December 2021

Acquired Hyperzincaemia Due to Zinc-Laden Denture Adhesives Leading to Hypocupraemia as a Cause of Neutropenia.

Eur J Case Rep Intern Med 2021 29;8(11):002983. Epub 2021 Nov 29.

Hematology/Oncology Division, Department of Internal Medicine, University of Arkansas for Medical Sciences, Little Rock, Arkansas, United States.

Introduction: Copper deficiency or hypocupraemia is a rare cause of anaemia and neutropenia.

Case Description: We hereby present the case of a 34-year-old female with gastric bypass surgery who presented with neutropenic fever, abdominal pain and diarrhoea, later found to have extended-spectrum beta-lactamase resistant urinary tract infection and small bowel bacterial overgrowth syndrome, with her anaemia and neutropenia being caused by copper deficiency due to hyperzincaemia induced by using zinc denture adhesive cream.

Discussion: Various causes of copper deficiency have been recognized including, but not limited to, malnutrition, gastrectomy, gastric bypass surgery, protein-losing enteropathies (coeliac disease, tropical sprue), Wilson disease and Menkes syndrome. Read More

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November 2021

Hair microscopy: an easy adjunct to diagnosis of systemic diseases in children.

Appl Microsc 2021 Nov 29;51(1):18. Epub 2021 Nov 29.

Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, 160012, India.

Hair, having distinct stages of growth, is a dynamic component of the integumentary system. Nonetheless, derangement in its structure and growth pattern often provides vital clues for the diagnosis of systemic diseases. Assessment of the hair structure by various microscopy techniques is, hence, a valuable tool for the diagnosis of several systemic and cutaneous disorders. Read More

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November 2021

Tracking Labile Copper Fluctuation /: Design and Application of a Ratiometric Near-Infrared Fluorophore Derived from 4-Aminostyrene-Conjugated Boron Dipyrromethene.

Inorg Chem 2021 Dec 26;60(24):18567-18574. Epub 2021 Nov 26.

School of Environmental Science, Nanjing Xiaozhuang University, Nanjing 211171, China.

Specimen differences, tissue-dependent background fluorescence and scattering, and deviated specimen position and sensor concentration make optical imaging for labile copper fluctuation in animals questionable, and a signal comparison between specimens is infeasible. We proposed ratiometric optical imaging as an alternative to overcome these disadvantages, and a near-infrared (NIR) ratiometric sensor, , was devised therefore by conjugating boron dipyrromethene (BODIPY) with 4-aminostyrene and modifying the 4-amino group as a Cu chelator. possessed an excitation ratiometric copper-sensing ability to show the ratio of NIR emission (710 nm) upon excitation at 600 nm to that at 660 nm, /, increasing from 2. Read More

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December 2021

[Consequences of childhood cancer in the quest for first job in the Grand Ouest inter-region: A mixed-method study designed from the Grand Ouest Cancer de l'Enfant (GOCE) organization in childhood cancer survivors and professionals].

Bull Cancer 2022 Mar 14;109(3):318-330. Epub 2021 Oct 14.

CHU de Poitiers, unité d'onco-hématologie pédiatrique, Inserm CIC 1402, 86000 Poitiers, France. Electronic address:

Introduction: The professional situation of patients treated for childhood cancer differs from country to country. The aim of the study is to study, with the French sociocultural specificities, the first professional integration of these young people.

Methods: A sequential quantitative-qualitative mixed approach associates 16 individual interviews and responses to a self-questionnaire of 254 young cancer survivors (sex-ratio=1, median age 23. Read More

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PLEKHA5, PLEKHA6, and PLEKHA7 bind to PDZD11 to target the Menkes ATPase ATP7A to the cell periphery and regulate copper homeostasis.

Mol Biol Cell 2021 11 6;32(21):ar34. Epub 2021 Oct 6.

Department of Cell Biology, Faculty of Sciences, University of Geneva, CH-1205 Geneva, Switzerland.

Copper homeostasis is crucial for cellular physiology and development, and its dysregulation leads to disease. The Menkes ATPase ATP7A plays a key role in copper efflux, by trafficking from the Golgi to the plasma membrane upon cell exposure to elevated copper, but the mechanisms that target ATP7A to the cell periphery are poorly understood. PDZD11 interacts with the C-terminus of ATP7A, which contains sequences involved in ATP7A trafficking, but the role of PDZD11 in ATP7A localization is unknown. Read More

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November 2021

Pili Torti: A Feature of Numerous Congenital and Acquired Conditions.

J Clin Med 2021 Aug 30;10(17). Epub 2021 Aug 30.

Department of Dermatology, Medical University of Warsaw, Koszykowa 82A, 02-008 Warsaw, Poland.

Pili torti is a rare condition characterized by the presence of the hair shaft, which is flattened at irregular intervals and twisted 180° along its long axis. It is a form of hair shaft disorder with increased fragility. The condition is classified into inherited and acquired. Read More

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Tubular Dysfunction and Ruptured Ureter in a Child with Menkes Syndrome.

Case Rep Pediatr 2021 17;2021:4398456. Epub 2021 Aug 17.

Department of Surgery, The Hong Kong Children's Hospital, Kowloon, Hong Kong.

Children with Menkes disease may develop various urological and renal problems that evolve as the disease progresses. A 4-year-old boy with Menkes disease had multiple bladder diverticula and a history of recurrent urinary tract infection caused by urea-splitting organisms. The child developed urosepsis and right pyelonephritis. Read More

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Menkes disease diagnosed by a frameshift mutation in a patient with infantile spasms-a case report.

Transl Pediatr 2021 Jul;10(7):1965-1971

Department of Pediatrics, West China Second University Hospital of Sichuan University.

Menkes disease (MD) is a rare congenital copper deficiency disease caused by an adenosine triphosphatase copper transporting alpha () gene mutation. It is a progressive and systemic disease that primarily involves the central nervous system and connective tissues. The clinical manifestation of these patients with MD is curly hair, progressive muscle tone reduction, and convulsions, and often leads to death in early infancy. Read More

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Pharmacokinetics of CuGTSM, a Novel Drug Candidate, in a Mouse Model of Menkes Disease.

Pharm Res 2021 Aug 17;38(8):1335-1344. Epub 2021 Aug 17.

Research Institute of Pharmaceutical Sciences, Musashino University, Tokyo, Japan.

Purpose: Menkes disease is a rare hereditary disease in which systemic deficiency of copper due to mutation of the ATP7A gene causes severe neurodegenerative disorders. The present parenteral drugs have limited efficacy, so there is a need for an efficacious drug that can be administered orally. This study focused on glyoxal-bis (N(4)-methylthiosemicarbazonato)-copper(II (CuGTSM), which has shown efficacy in macular mice, a murine model of Menkes disease, and examined its pharmacokinetics. Read More

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The molecular and cellular basis of copper dysregulation and its relationship with human pathologies.

FASEB J 2021 09;35(9):e21810

Department of Molecular Biology and Biochemistry, Wesleyan University, Middletown, CT, USA.

Copper (Cu) is an essential micronutrient required for the activity of redox-active enzymes involved in critical metabolic reactions, signaling pathways, and biological functions. Transporters and chaperones control Cu ion levels and bioavailability to ensure proper subcellular and systemic Cu distribution. Intensive research has focused on understanding how mammalian cells maintain Cu homeostasis, and how molecular signals coordinate Cu acquisition and storage within organs. Read More

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September 2021

Therapeutic Use of Trace Elements in Dermatology.

Altern Ther Health Med 2021 Jul 16. Epub 2021 Jul 16.

Trace elements (microminerals) play a role in many physiological functions, including hormone production and cellular growth. However, their importance in diagnosing and treating dermatologic disease has not been well examined. In this review, we discuss the functions, sources, and recommended requirements of each micromineral. Read More

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Copper nutrition and biochemistry and human (patho)physiology.

James F Collins

Adv Food Nutr Res 2021 12;96:311-364. Epub 2021 Apr 12.

Food Science and Human Nutrition Department, University of Florida, Gainesville, FL, United States. Electronic address:

The essential trace mineral copper plays important roles in human physiology and pathophysiology. Disruption of copper homeostasis may underlie the development of ischemic heart disease, and connective tissue and neurodegenerative disorders. Copper also likely participates in the host response to bacterial infection and is further implicated more broadly in regulating immunity. Read More

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October 2021

Whole-Exome Sequencing, Proteome Landscape, and Immune Cell Migration Patterns in a Clinical Context of Menkes Disease.

Genes (Basel) 2021 05 14;12(5). Epub 2021 May 14.

Department of Histology, Universidad Autónoma de Nuevo León, Facultad de Medicina, Monterrey 64460, Mexico.

Menkes disease (MD) is a rare and often lethal X-linked recessive syndrome, characterized by generalized alterations in copper transport and metabolism, linked to mutations in the ATPase copper transporting α () gene. Our objective was to identify genomic alterations and circulating proteomic profiles related to MD assessing their potential roles in the clinical features of the disease. We describe the case of a male patient of 8 months of age with silvery hair, tan skin color, hypotonia, alterations in neurodevelopment, presence of seizures, and low values of plasma ceruloplasmin. Read More

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Neuropathological findings in a 17-month-old boy with kinky hair due to Menkes disease.

Clin Neuropathol 2021 Sep-Oct;40(5):256-261

Menkes disease is a neurodegenerative metabolic disorder. It is an X-lined recessive disorder of copper metabolism. It is characterized by seizures, developmental delay with loss of achieved milestones, along with skin and hair changes. Read More

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December 2021

Genetic causes of fractures and subdural hematomas: fact versus fiction.

Pediatr Radiol 2021 May 17;51(6):1029-1043. Epub 2021 May 17.

George Washington University School of Medicine and Health Sciences, Washington, DC, USA.

Genetic disorders are in the differential diagnosis when young children present with unexplained fractures or intracranial hemorrhage. For medical and legal reasons, it is imperative to make the correct diagnosis and provide clear, evidence-based explanations of how alternative diagnoses were ruled out. A genetics consultation in cases of suspected child physical abuse should synthesize the history of present illness, medical history, family history, physical examination, and radiologic and laboratory findings in consultation with other specialists. Read More

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