1,061 results match your criteria Menkes Kinky Hair Disease


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

Clin Neuropathol 2021 May 25. Epub 2021 May 25.

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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[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

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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January 2020

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

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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October 2019

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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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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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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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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January 2019

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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January 2019

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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November 2018

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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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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November 2018

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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January 2019