1,071 results match your criteria Menkes Kinky Hair Disease


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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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

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

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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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

Hair Abnormalities: Key to Suspecting Menkes Disease.

Actas Dermosifiliogr 2021 Jul 24;112 Suppl 1:10. Epub 2021 Apr 24.

Departamento de Dermatología, Hospital Universitario Son Espases, Palma de Mallorca, España.

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[Pedigree study and analysis of ATP7A gene variants in three children with Menkes disease].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2021 Feb;38(2):108-111

Department of Pediatric Neurology, the Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.

Objective: To explore the genetic basis for three children with Menkes disease.

Methods: The patients were subjected to next-generation sequencing (NGS) to detect potential variants of the ATP7A gene. Suspected variants were verified by Sanger sequencing of their family members and 200 healthy individuals. Read More

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February 2021

Repurposing elesclomol, an investigational drug for the treatment of copper metabolism disorders.

Authors:
Vishal M Gohil

Expert Opin Investig Drugs 2021 Jan 5;30(1):1-4. Epub 2020 Nov 5.

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

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January 2021

Laparoscopic patch repair of a Morgagni hernia in Menkes disease.

Asian J Endosc Surg 2021 Jul 10;14(3):553-556. Epub 2020 Sep 10.

Pediatric Surgery Unit, Azienda Ospedaliera Universitaria Policlinico Umberto I, Sapienza University of Rome, Rome, Italy.

The association between Morgagni hernia and Menkes disease has not yet been described. Here, we report such a rare association in an 8-year-old boy who presented with subocclusive symptoms. He successfully underwent laparoscopic repair with a patch. Read More

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LC-ICP-MS method for the determination of "extractable copper" in serum.

Metallomics 2020 09;12(9):1348-1355

Elemental Scientific, Inc., 7277 World Communications Dr., Omaha, NE, USA.

Copper is an essential element for biological functions within humans and animals. There are several known diseases associated with Cu deficiency or overload, such as Menkes disease and Wilson disease, respectively. A common clinical method for determining extractable Cu levels in serum, which is thought to be potentially dangerous if in excess, is to subtract the value of tightly incorporated Cu in ceruloplasmin from total serum Cu. Read More

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September 2020

Case 280: Trichopoliodystrophy.

Radiology 2020 Aug;296(2):463-467

From the Department of Diagnostic and Interventional Radiology, Kwong Wah Hospital, 25 Waterloo Road, Yau Ma Tei, Hong Kong (K.F.K.F., Y.Y.K., W.S.M.); and Department of Radiology, Hong Kong Children's Hospital, Hong Kong (Y.L.E.K.).

HistoryAn 8-month-old previously healthy boy was referred to our institution by the maternal child health center for progressive truncal hypotonia and developmental delay. This infant was born after an uncomplicated pregnancy with no perinatal complications. He was delivered at full term via spontaneous vaginal delivery. Read More

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

Ann Biol Clin (Paris) 2020 08;78(4):441-445

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

Pflugers Arch 2020 10 7;472(10):1415-1429. 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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October 2020

Visual Dermatology: Menkes Disease.

J Cutan Med Surg 2021 Mar-Apr;25(2):211. Epub 2020 Jun 5.

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

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November 2021

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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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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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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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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[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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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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December 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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February 2020

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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October 2019

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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November 2019

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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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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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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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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November 2019