Menkes Kinky Hair Syndrome: An inherited disorder of copper metabolism transmitted as an X-linked trait and characterized by the infantile onset of HYPOTHERMIA, feeding difficulties, hypotonia, SEIZURES, bony deformities, pili torti (twisted hair), and severely impaired intellectual development. Defective copper transport across plasma and endoplasmic reticulum membranes results in copper being unavailable for the synthesis of several copper containing enzymes, including PROTEIN-LYSINE 6-OXIDASE; CERULOPLASMIN; and SUPEROXIDE DISMUTASE. Pathologic changes include defects in arterial elastin, neuronal loss, and gliosis. (From Menkes, Textbook of Child Neurology, 5th ed, p125)Duodenoscopy: Endoscopic examination, therapy or surgery of the luminal surface of the duodenum.Crohn Disease: A chronic transmural inflammation that may involve any part of the DIGESTIVE TRACT from MOUTH to ANUS, mostly found in the ILEUM, the CECUM, and the COLON. In Crohn disease, the inflammation, extending through the intestinal wall from the MUCOSA to the serosa, is characteristically asymmetric and segmental. Epithelioid GRANULOMAS may be seen in some patients.Hepatolenticular Degeneration: A rare autosomal recessive disease characterized by the deposition of copper in the BRAIN; LIVER; CORNEA; and other organs. It is caused by defects in the ATP7B gene encoding copper-transporting ATPase 2 (EC 126.96.36.199), also known as the Wilson disease protein. The overload of copper inevitably leads to progressive liver and neurological dysfunction such as LIVER CIRRHOSIS; TREMOR; ATAXIA and intellectual deterioration. Hepatic dysfunction may precede neurologic dysfunction by several years.Cation Transport Proteins: Membrane proteins whose primary function is to facilitate the transport of positively charged molecules (cations) across a biological membrane.Copper: A heavy metal trace element with the atomic symbol Cu, atomic number 29, and atomic weight 63.55.Adenosine Triphosphatases: A group of enzymes which catalyze the hydrolysis of ATP. The hydrolysis reaction is usually coupled with another function such as transporting Ca(2+) across a membrane. These enzymes may be dependent on Ca(2+), Mg(2+), anions, H+, or DNA.Metallochaperones: A family of soluble metal binding proteins that are involved in the intracellular transport of specific metal ions and their transfer to the appropriate metalloprotein precursor.CeruloplasminRats, Inbred LEC: A cinnamon-colored strain of Long-Evans rats which carries a mutation causing fulminant hepatitis and jaundice, with an associated gross accumulation of copper in the liver. This strain is a model for Wilson's Disease (see HEPATOLENTICULAR DEGENERATION).Brain Diseases, Metabolic: Acquired or inborn metabolic diseases that produce brain dysfunction or damage. These include primary (i.e., disorders intrinsic to the brain) and secondary (i.e., extracranial) metabolic conditions that adversely affect cerebral function.Metal Metabolism, Inborn ErrorsCarrier Proteins: Transport proteins that carry specific substances in the blood or across cell membranes.Recombinant Fusion Proteins: Recombinant proteins produced by the GENETIC TRANSLATION of fused genes formed by the combination of NUCLEIC ACID REGULATORY SEQUENCES of one or more genes with the protein coding sequences of one or more genes.Dimethyldithiocarbamate: A chemical that acts as a dopamine beta-hydroxylase inhibitor. Its salts are agricultural fungicides. It is inferior to diethyldithiocarbamate as a chelating agent.Trientine: An ethylenediamine derivative used as stabilizer for EPOXY RESINS, as ampholyte for ISOELECTRIC FOCUSING and as chelating agent for copper in HEPATOLENTICULAR DEGENERATION.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Molecular Sequence Data: Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.Penicillamine: 3-Mercapto-D-valine. The most characteristic degradation product of the penicillin antibiotics. It is used as an antirheumatic and as a chelating agent in Wilson's disease.Rats, Mutant Strains: Rats bearing mutant genes which are phenotypically expressed in the animals.Extrapyramidal Tracts: Uncrossed tracts of motor nerves from the brain to the anterior horns of the spinal cord, involved in reflexes, locomotion, complex movements, and postural control.Biological Transport: The movement of materials (including biochemical substances and drugs) through a biological system at the cellular level. The transport can be across cell membranes and epithelial layers. It also can occur within intracellular compartments and extracellular compartments.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.Molecular Chaperones: A family of cellular proteins that mediate the correct assembly or disassembly of polypeptides and their associated ligands. Although they take part in the assembly process, molecular chaperones are not components of the final structures.Sweat Glands: Sweat-producing structures that are embedded in the DERMIS. Each gland consists of a single tube, a coiled body, and a superficial duct.Droxidopa: A precursor of noradrenaline that is used in the treatment of parkinsonism. The racemic form (DL-threo-3,4-dihydroxyphenylserine) has also been used, and has been investigated in the treatment of orthostatic hypotension. There is a deficit of noradrenaline as well as of dopamine in Parkinson's disease and it has been proposed that this underlies the sudden transient freezing seen usually in advanced disease. Administration of DL-threo-3,4-dihydroxyphenylserine has been claimed to result in an improvement in this phenomenon but controlled studies have failed to demonstrate improvement. (Reynolds JEF(Ed): Martindale: The Extra Pharmacopoeia (electronic version). Micromedex, Inc, Englewood, CO, 1995)Cutis Laxa: A group of connective tissue diseases in which skin hangs in loose pendulous folds. It is believed to be associated with decreased elastic tissue formation as well as an abnormality in elastin formation. Cutis laxa is usually a genetic disease, but acquired cases have been reported. (From Dorland, 27th ed)Amino Acid Sequence: The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.Ehlers-Danlos Syndrome: A heterogeneous group of autosomally inherited COLLAGEN DISEASES caused by defects in the synthesis or structure of FIBRILLAR COLLAGEN. There are numerous subtypes: classical, hypermobility, vascular, and others. Common clinical features include hyperextensible skin and joints, skin fragility and reduced wound healing capability.Chelation Therapy: Therapy of heavy metal poisoning using agents which sequester the metal from organs or tissues and bind it firmly within the ring structure of a new compound which can be eliminated from the body.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Fluorescent Antibody Technique, Indirect: A form of fluorescent antibody technique commonly used to detect serum antibodies and immune complexes in tissues and microorganisms in specimens from patients with infectious diseases. The technique involves formation of an antigen-antibody complex which is labeled with fluorescein-conjugated anti-immunoglobulin antibody. (From Bennington, Saunders Dictionary & Encyclopedia of Laboratory Medicine and Technology, 1984)Sweat: The fluid excreted by the SWEAT GLANDS. It consists of water containing sodium chloride, phosphate, urea, ammonia, and other waste products.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Chelating Agents: Chemicals that bind to and remove ions from solutions. Many chelating agents function through the formation of COORDINATION COMPLEXES with METALS.Golgi Apparatus: A stack of flattened vesicles that functions in posttranslational processing and sorting of proteins, receiving them from the rough ENDOPLASMIC RETICULUM and directing them to secretory vesicles, LYSOSOMES, or the CELL MEMBRANE. The movement of proteins takes place by transfer vesicles that bud off from the rough endoplasmic reticulum or Golgi apparatus and fuse with the Golgi, lysosomes or cell membrane. (From Glick, Glossary of Biochemistry and Molecular Biology, 1990)Chromosomes, Human, Pair 13: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.DNA Primers: Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.Methoxyhydroxyphenylglycol: Synthesized from endogenous epinephrine and norepinephrine in vivo. It is found in brain, blood, CSF, and urine, where its concentrations are used to measure catecholamine turnover.3,4-Dihydroxyphenylacetic Acid: A deaminated metabolite of LEVODOPA.Protein Transport: The process of moving proteins from one cellular compartment (including extracellular) to another by various sorting and transport mechanisms such as gated transport, protein translocation, and vesicular transport.Cubital Tunnel Syndrome: Compression of the ULNAR NERVE in the cubital tunnel, which is formed by the two heads of the flexor carpi ulnaris muscle, humeral-ulnar aponeurosis, and medial ligaments of the elbow. This condition may follow trauma or occur in association with processes which produce nerve enlargement or narrowing of the canal. Manifestations include elbow pain and PARESTHESIA radiating distally, weakness of ulnar innervated intrinsic hand muscles, and loss of sensation over the hypothenar region, fifth finger, and ulnar aspect of the ring finger. (Joynt, Clinical Neurology, 1995, Ch51, p43)Cell Line: Established cell cultures that have the potential to propagate indefinitely.Sweating: The process of exocrine secretion of the SWEAT GLANDS, including the aqueous sweat from the ECCRINE GLANDS and the complex viscous fluids of the APOCRINE GLANDS.Dopamine beta-HydroxylaseBinding Sites: The parts of a macromolecule that directly participate in its specific combination with another molecule.Disease Models, Animal: Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.DNA, Complementary: Single-stranded complementary DNA synthesized from an RNA template by the action of RNA-dependent DNA polymerase. cDNA (i.e., complementary DNA, not circular DNA, not C-DNA) is used in a variety of molecular cloning experiments as well as serving as a specific hybridization probe.Homeostasis: The processes whereby the internal environment of an organism tends to remain balanced and stable.Mice, Mutant Strains: Mice bearing mutant genes which are phenotypically expressed in the animals.Fibroblasts: Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.Sequence Deletion: Deletion of sequences of nucleic acids from the genetic material of an individual.Genetic Complementation Test: A test used to determine whether or not complementation (compensation in the form of dominance) will occur in a cell with a given mutant phenotype when another mutant genome, encoding the same mutant phenotype, is introduced into that cell.Cloning, Molecular: The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.
"Wilson disease and Menkes disease: new handles on heavy-metal transport". Trends Genet. 10 (7): 246-52. doi:10.1016/0168-9525( ... such as Wilson's and Menke's diseases. The HMA domain, contains two conserved cysteines that are probably involved in metal ... "Solution structure of the fourth metal-binding domain from the Menkes copper-transporting ATPase". Nat. Struct. Biol. 5 (1): 47 ...
"Structural basis for copper transfer by the metallochaperone for the Menkes/Wilson disease proteins". Nat. Struct. Biol. 7 (9 ... "Characterization of the interaction between the Wilson and Menkes disease proteins and the cytoplasmic copper chaperone, HAH1p ... Hamza I, Schaefer M, Klomp LW, Gitlin JD (1999). "Interaction of the copper chaperone HAH1 with the Wilson disease protein is ... Wernimont AK, Yatsunyk LA, Rosenzweig AC (2004). "Binding of copper(I) by the Wilson disease protein and its copper chaperone ...
CCS is currently being tested as a biomarker in humans. Several rare genetic diseases (Wilson disease, Menkes ... If diagnosed and treated early enough, patients with Wilson's disease may live long and productive lives. Wilson's disease is ... Even with early diagnosis and treatment, Menkes disease is usually fatal. Ongoing research into Menkes disease ... The diseases arise from defects in two similar copper pumps, the Menkes and the Wilson Cu-ATPases. The Menkes ATPase is ...
... the only two inherited copper metabolism disorders known were Menkes disease and Wilson's disease. Menkes and Wilson's disease ... Both ATPases, ATP7A (Menkes) and ATP7B (Wilson's) are located in the trans-Golgi network and are responsible for transporting ... with MEDNIK syndrome have been shown to display combined clinical and biochemical signs of both Menkes and Wilson's diseases. ... Transmission of the disease is believed to be autosomal recessive. Symptoms of the syndrome are intellectual disability, ...
... defective in Menkes and Wilson diseases". Biochem. Biophys. Res. Commun. United States. 348 (2): 428-36. doi:10.1016/j.bbrc. ... GLRX has been shown to interact with Wilson disease protein and ATP7A. GRCh38: Ensembl release 89: ENSG00000173221 - Ensembl, ...
Barnes N, Tsivkovskii R, Tsivkovskaia N, Lutsenko S (2005). "The copper-transporting ATPases, menkes and wilson disease ... Menkes disease is caused by mutations in the ATP7A gene. Researchers have identified different ATP7A mutations that cause ... Menkes disease and occipital horn syndrome (OHS), the milder form of Menkes disease. Many of these mutations delete part of the ... Tümer Z, Vural B, Tønnesen T, Chelly J, Monaco AP, Horn N (1995). "Characterization of the exon structure of the Menkes disease ...
Wilson disease (a rare (UK incidence 2/100,000) copper storage disease). This disease causes very high levels of copper in the ... Menkes disease (Menkes kinky hair syndrome) (rare - UK incidence 1/100,000) Copper deficiency Aceruloplasminemia Greater-than- ... Menkes disease) Delivery of copper into the lumen of the ER-Golgi network is absent in hepatocytes due to absent ATP7B ( ... Wilson's disease) Copper availability doesn't affect the translation of the nascent protein. However, the apoenzyme without ...
... responsible for the human diseases Menkes syndrome (MIM 309400) and Wilson disease (MIM 277900), respectively, are involved in ...
"Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes". J ... Menkes disease (MNK), also known as Menkes syndrome, is an X-linked recessive disorder that affects copper levels in the body, ... Barnes N, Tsivkovskii R, Tsivkovskaia N, Lutsenko S (2005). "The copper-transporting ATPases, Menkes and Wilson disease ... Menkes Disease at eMedicine Online Mendelian Inheritance in Man (OMIM) 300011 Voskoboinik I, Camakaris J (2002). "Menkes copper ...
ATP7A and Menkes disease Wilson's Disease ATOX1 GRCh38: Ensembl release 89: ENSG00000123191 - Ensembl, May 2017 GRCm38: Ensembl ... Therefore, symptoms of Wilson disease could be various including kidney disease and neurological disease. The major cause is ... GeneReviews/NIH/NCBI/UW entry on Wilson Disease or Hepatolenticular Degeneration Wilson disease protein at the US National ... Genetic disorder of the ATP7B gene may cause Wilson's disease, a disease in which copper accumulates in tissues, leading to ...
Y.Fujimoto Kimmelstiel-Wilson disease - Paul Kimmelstiel, Clifford Wilson Kimura's disease - T. Kimura King-Kopetzky syndrome ... Prosper Ménière Menkes disease - John Hans Menkes Middleton syndrome - Stephen John Middleton Mikulicz's disease - Jan Mikulicz ... Related disease naming structures reference place names (Bornholm disease, Lyme disease, Ebola virus disease), and societies, ... Lynch Machado-Joseph disease (a.k.a. Machado-Joseph Azorean disease, Machado disease, Joseph's disease) - named for William ...
Disorders of copper metabolism Wilson's disease Menkes disease (E83.1) Disorders of iron metabolism Aceruloplasminemia ... Glycogen storage disease type II (Pompe's disease) Glycogen storage disease type III Glycogen storage disease type IV Glycogen ... Bielschowsky-Jansky disease (Type 2) Kufs disease (Type 4) Spielmeyer-Vogt disease (Type 3) (E75.5) Other lipid storage ... Other sphingolipidosis Gaucher's disease (ILDS E75.220) Niemann-Pick disease (ILDS E75.230) Farber's disease (ILDS E75.240) ...
Vulpe, C.; Levinson, B.; Whitney, S.; Packman, S.; Gitschier, J. (1993). "Isolation of a candidate gene for Menkes disease and ... "Characterization of the Wilson disease gene encoding a P-type copper-transporting ATPase: genomic organization, alternative ...
... syndrome Morvan's syndrome Mouth and genital ulcers with inflamed cartilage syndrome Mowat-Wilson syndrome Moyamoya disease ... syndrome Melkersson-Rosenthal syndrome Melnick-Needles syndrome Memory distrust syndrome Mendelson's syndrome Menkes disease ... Wildervanck syndrome Williams syndrome Williams-Campbell syndrome Wilson's temperature syndrome Wilson-Mikity syndrome Wilson- ... Town Lawrence-Seip syndrome Lazarus syndrome Leaky gut syndrome Legg-Calvé-Perthes disease Legius syndrome Leiner's disease ...
... expert on Menkes disease C. D. Darlington (1903-1981), British biologist and geneticist, elucidated chromosomal crossover ... Canadian medical geneticist and expert on Wilson's disease Harriet Creighton (1909-2004), US botanist who with McClintock first ... Allan Wilson (1934-1991) New Zealand-US innovator in molecular study of human evolution David Sloan Wilson (born 1949), US ... complex diseases Robert Race (1907-1984), British expert on blood groups, along with wife Ruth Sanger Sheldon C. Reed (1910- ...
Andrews' Diseases of the Skin (10th ed.). Elsevier.. *^ Gibson, R. S. (2005). "Assessment of vitamin B6 status". Principles of ... Menkes, John H. (1980). Textbook of Child Neurology (2nd ed.). Philadelphia: Henry Kimpton Publishers. p. 486. ISBN 978-0-8121- ... Wilson, Stephanie MC; Bivins, Brittney N; Russell, Katelyn A; Bailey, Lynn B (2011). "Oral contraceptive use: Impact on folate ... In 1934, the Hungarian physician Paul György discovered a substance that was able to cure a skin disease in rats (dermatitis ...
Menkes disease is a congenital disease that is a cause of copper deficiency. Menkes disease is a hereditary condition caused by ... This mechanism is exploited therapeutically to achieve negative balance in Wilson's disease, which involves an excess of copper ... Menkes disease is usually a fatal disease with most children dying within the first ten years of life. It is rarely suggested ... Molecular correlates of epilepsy in early diagnosed and treated Menkes disease. Journal of Inherited Metabolic Disease, 33(5), ...
Andrews' Diseases of the Skin (10th ed.). Elsevier.. *^ Gibson RS (2005). "Assessment of vitamin B6 status". Principles of ... Menkes JH (1980). Textbook of Child Neurology (2nd ed.). Philadelphia: Henry Kimpton Publishers. p. 486. ISBN 978-0-8121-0661-9 ... Wilson SM, Bivins BN, Russell KA, Bailey LB (October 2011). "Oral contraceptive use: impact on folate, vitamin B₆, and vitamin ... In 1934, the Hungarian physician Paul György discovered a substance that was able to cure a skin disease in rats (dermatitis ...
... with subcortical cysts Megalencephaly Melkersson-Rosenthal syndrome Menieres disease Meningitis Menkes disease Metachromatic ... see Spinal muscular atrophy West syndrome Whiplash Williams syndrome Wilson's disease Y-Linked hearing impairment Zellweger ... Lumbar disc disease Lumbar spinal stenosis Lupus erythematosus - neurological sequelae Lyme disease Machado-Joseph disease ... Phantom pain Photic sneeze reflex Phytanic acid storage disease Pick's disease Pinched nerve Pituitary tumors PMG ...
Celiac disease affects about 7-20% and gastroesophageal reflux disease is also more common. Individuals with Down syndrome tend ... Wilson, Golder N.; Cooley, W. Carl (2006). Preventive management of children with congenital anomalies and syndromes (2 ed.). ... Menkes, John H.; Sarnat, Harvey B. (2005). Child neurology (7th ed.). Philadelphia, PA: Lippincott Williams & Wilkins. p. 228. ... Many (15%) who live 40 years or longer develop Alzheimer disease. In those who reach 60 years of age, 50-70% have the disease. ...
Menkes/ATP7A. *Wilson/ATP7B. Ca+ (188.8.131.52). *SERCA *ATP2A1. *ATP2A2. *ATP2A3. *Plasma membrane *ATP2B1 ...
Initial treatment for severe disease is with intravenous calcium chloride and possibly magnesium sulfate. Other treatments ... Wilson's disease. deficiency:. *Copper deficiency. *Menkes disease/Occipital horn syndrome. Zn. high:. *Zinc toxicity ...
Wilson's disease. deficiency:. *Copper deficiency. *Menkes disease/Occipital horn syndrome. Zn. high:. *Zinc toxicity ...
Menkes, J.H. (2006). "Toxic and nutritional disorders". In Menkes, J.H.; Sarnat, H.B.; Maria, B.L. Child Neurology (7th ed.). ... Wilson, Ian Harold; Wilson, Simon Barton (2016). "Confounding and causation in the epidemiology of lead". International Journal ... Centers for Disease Control and Prevention. Archived (PDF) from the original on 9 January 2012. Retrieved 5 January 2012.. ... Menkes (2006) p.703 *^ a b Maas, RP; Patch, SC; Morgan, DM; Pandolfo, TJ (2005). "Reducing lead exposure from drinking water: ...
The rate of congenital heart disease in newborns with Down syndrome is around 40%. Of those with heart disease, about 80% ... Wilson, Golder N.; Cooley, W. Carl (2006). Preventive management of children with congenital anomalies and syndromes (2 ed.). ... Menkes, John H.; Sarnat, Harvey B. (2005). Child neurology (7th ed.). Philadelphia, PA: Lippincott Williams & Wilkins. p. 228. ... Hammer, edited by Stephen J. McPhee, Gary D. (2010). "Pathophysiology of Selected Genetic Diseases". Pathophysiology of disease ...
This article is about a skin disease common during adolescence. For other acneiform skin diseases, see Acne (disambiguation). ... Erasmus Wilson, in 1842, was the first to make the distinction between acne vulgaris and rosacea. The first professional ... Disease Primers. 1: 15033. doi:10.1038/nrdp.2015.33. PMID 27227877.. *^ a b "Frequently Asked Questions: Acne" (PDF). U.S. ... Acne, also known as acne vulgaris, is a long-term skin disease that occurs when dead skin cells and oil from the skin clog hair ...
Cultured fibroblasts from Menkes kinky hair disease patients showed markedly reduced succinate dehydrogenase and amine oxidase ... Histochemical studies of fibroblasts from patients with Menkes kinky hair disease and Wilsons disease. ... Chan, W. Y. &Rennert, O. M. (1980a) Comparative study of Menkes and Wilsons disease.Cien Biol. 5, 73-5.Google Scholar ... that the histochemical phenotype observed in fibroblasts from patients with Menkes kinky hair disease and Wilsons disease were ...
The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers : a new canine model for copper- ... The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers : a new canine model for copper- ... Menkes disease, involving ATP7A, is a fatal neurodegenerative disorder of copper deficiency. Mutations in ATP7B lead to Wilson ... The deleterious effects of a disrupted copper metabolism are illustrated by hereditary diseases caused by mutations in the ...
diagnosis of Wilson disease. *any disease or condition that, in the opinion of the Investigator, has a high probability of ... Hair Diseases. Skin Diseases. Metabolic Diseases. Skin Diseases, Genetic. Connective Tissue Diseases. Hemostatic Disorders. ... Brain Diseases, Metabolic, Inborn. Brain Diseases, Metabolic. Brain Diseases. Central Nervous System Diseases. Nervous System ... Genetic and Rare Diseases Information Center resources: Menkes Disease Occipital Horn Syndrome Cutis Laxa Ehlers-Danlos ...
Diagnosis of Wilson disease. *Any disease or condition that, in the opinion of the Investigator, has a high probability of ... Hair Diseases. Skin Diseases. Metabolic Diseases. Skin Diseases, Genetic. Connective Tissue Diseases. Hemostatic Disorders. ... Menkes Kinky Hair Syndrome. Cutis Laxa. Brain Diseases, Metabolic, Inborn. Brain Diseases, Metabolic. Brain Diseases. Central ... Condition or disease Intervention/treatment Phase Menkes Disease Occipital Horn Syndrome Unexplained Copper Deficiency Drug: ...
In the 52 years since the original description of Menkes kinky hair disease (MKHD), advances in understanding the clinical, ... Wilsons disease and Menkes disease. Am J Physiol. 1999 Feb. 276(2 Pt 1):G311-4. [Medline]. ... Drugs & Diseases , Pediatrics: Genetics and Metabolic Disease Genetics of Menkes Kinky Hair Disease Follow-up. Updated: Sep 08 ... Intracellular localization of the Menkes and Wilsons disease proteins and their role in intracellular copper transport. ...
In the 52 years since the original description of Menkes kinky hair disease (MKHD), advances in understanding the clinical, ... Wilsons disease and Menkes disease. Am J Physiol. 1999 Feb. 276(2 Pt 1):G311-4. [Medline]. ... encoded search term (Genetics of Menkes Kinky Hair Disease) and Genetics of Menkes Kinky Hair Disease What to Read Next on ... As in Leigh disease, patients with Menkes kinky hair disease do not have the severe lactic acidemia associated with other ...
Menkes syndrome is a disorder that affects copper levels in the body. Explore symptoms, inheritance, genetics of this condition ... Menkes JH. Menkes disease and Wilson disease: two sides of the same copper coin. Part I: Menkes disease. Eur J Paediatr Neurol ... Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes. J ... Barnes N, Tsivkovskii R, Tsivkovskaia N, Lutsenko S. The copper-transporting ATPases, menkes and wilson disease proteins, have ...
Wilson disease. Menkes syndrome. Disorders of glycosylation. Carbohydrate-deficient glycoprotein syndromes, types Ia and Ib ... Inherited metabolic diseases, often referred to as inborn errors of metabolism, comprise a large class of genetic diseases ... As the number of inherited metabolic diseases that are included in state-based newborn screening programs continues to increase ... disease management, and assessing a persons risk for carrying a specific disease trait (i.e., carrier status assessment), such ...
From Menkes, Textbook of Child Neurology, 5th ed, p125) ... Menkes Kinky Hair Syndrome: An inherited disorder of copper ... Wilson protein) and SOD1 showed normal results, implying a copper metabolism defect other than Wilson or Menkes disease. ". 10/ ... Disease, Steely Hair; Diseases, Kinky Hair; Diseases, Menkes; Diseases, Steely Hair; Hair Diseases, Kinky; Hair Diseases, ... Menkes Syndrome; Steely Hair Syndrome; Congenital Hypocupremia; Kinky Hair Disease; Menkes Disease; Steely Hair Disease; ...
Menkes disease, also known as trichopoliodystrophy or Kinky hair kinky vessel syndrome, is an X-linked recessive disorder that ... Wilson disease (copper). *mitochondrial *Kearns-Sayre syndrome. *Leigh syndrome. *mitochondrial encephalopathy with lactic ... Menkes disease, also known as trichopoliodystrophy or Kinky hair kinky vessel syndrome, is an X-linked recessive disorder that ... Menkes disease or "kinky hair, kinky vessel syndrome" is a multi-systemic disorder with an X linked inheritance, with mutation ...
"Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes". J ... Menkes disease (MNK), also known as Menkes syndrome, is an X-linked recessive disorder that affects copper levels in the body, ... Barnes N, Tsivkovskii R, Tsivkovskaia N, Lutsenko S (2005). "The copper-transporting ATPases, Menkes and Wilson disease ... Menkes Disease at eMedicine Online Mendelian Inheritance in Man (OMIM) 300011 Voskoboinik I, Camakaris J (2002). "Menkes copper ...
9 Other Neurological Diseases.. 9.1 Introduction.. 9.2 Aceruloplasminaemia.. 9.3 Wilsons and Menkes diseases. ... 5 Huntingtons Disease and Polyglutamine Expansion Neurodegenerative Diseases.. 5.1 Introduction - an overview of trinucleotide ... 10.3 Huntingtons disease and other polyQ disorders.. 10.4 Friedreichs ataxia and other diseases linked to non-coding triplet ... 6.2 Molecular basis of the disease - triplet repeat expansions.. 6.3 Molecular basis of the disease - frataxin and its role in ...
Sambongi Y, Wakabayashi T, Yoshimizu T, Omote H, Oka T, Futai M. Caenorhabditis elegans cDNA for a Menkes/Wilson disease gene ... The putative Cu2+-ATPase is a 1,238-amino acid protein, and highly homologous to the Menkes and Wilson disease gene products ... Caenorhabditis elegans cDNA for a Menkes/Wilson disease gene homologue and its function in a yeast CCC2 gene deletion mutant. ... Caenorhabditis elegans cDNA for a Menkes/Wilson disease gene homologue and its function in a yeast CCC2 gene deletion mutant. ...
Menkes, J. H. (1999). Menkes disease and Wilson disease: two sides of the same Cu coin. Part II. Wilson disease. Eur. J. ... Wilsons disease; Menkes, 1999). Copper accumulation in our cells is therefore the sum of Cu influx across the mucosal membrane ... Harrison, M. D. and Dameron, C. T. (1999). Molecular mechanisms of copper metabolism and the role of the Menkes Disease protein ... Virkki, L. V., Wilson, D. A., Vaughan-Jones, R. D. and Boron, W. F. (2002). Functional characterization of human NBC4 as an ...
"Wilson disease and Menkes disease: new handles on heavy-metal transport". Trends Genet. 10 (7): 246-52. doi:10.1016/0168-9525( ... such as Wilsons and Menkes diseases. The HMA domain, contains two conserved cysteines that are probably involved in metal ... "Solution structure of the fourth metal-binding domain from the Menkes copper-transporting ATPase". Nat. Struct. Biol. 5 (1): 47 ...
Kubes and Fassl discuss the role of NETosis in sterile inflammation and disease, and propose windows of opportunity for ... Formation During Systemic Inflammation in Mice With Menkes Disease and Wilson Disease: Copper Requirement for NET Release * ... Figure 2: Overview of how NETosis may be involved in noninfectious-disease progression.. ... Gupta, S. & Kaplan, M.J. The role of neutrophils and NETosis in autoimmune and renal diseases. Nat. Rev. Nephrol. 12, 402-413 ( ...
Impairments have been linked to Menkes, Wilsons, and Alzheimers disease. Deficiency is rare, but it can lead to ... Menkes disease. Menkes disease, an X-linked recessive disorder, adversely affects how the brain metabolizes copper. This can ... In Wilsons disease, for example, high levels of copper collect in the liver, brain, and other vital organs. ... Kaler, S. G. (2014, August 28). Neurodevelopment and brain growth in classic Menkes disease is influenced by age and ...
Wilsons and Menkes diseases, anaemia, cancers).2,3 In particular, iron and copper involve the formation of reactive oxygen ... J. L. Hougland, J. Darling and S. Flynn, in Molecular Basis of Oxidative Stress, Chemistry, Mechanics and Disease Pathogenesis ... cardiovascular and digestive diseases, and even cancers.8,9 To prevent or forestall oxidative stress and its damaging effects, ... sickle cell disease), a systemic iron overload is observed, surpassing the total iron binding capacity (i.e., saturating ...
Wilson disease and Menkes disease: new handles on heavy-metal transport.. Trends Genet. 10 246-52 1994 ... Wilson disease and Menkes disease: new handles on heavy-metal transport.. Trends Genet. 10 246-52 1994 ... such as Wilsons and Menkes diseases [PMID: 8091505]. A conserved domain has been found in a number of these heavy metal ... Solution structure of the fourth metal-binding domain from the Menkes copper-transporting ATPase.. Nat. Struct. Biol. 5 47-54 ...
Copper storage diseases: Menkes, Wilsons, and Cancer. Kenyon G. Daniel, R. Hope Harbach, Wayne C. Guida, Q. Ping Dou. [ ... Parasitic diseases of the heart. Louis V. Kirchhoff, Louis M. Weiss, Murray Wittner, Herbert B. Tanowitz. [Frontiers In ... Jian-Wei Mo, Wilson Smart. [Frontiers In Bioscience, Landmark, 9, 3384-3391, September 1, 2004] [Abstract][Full text][PDF][ ... Role of cellular magnesium in health and human disease. Maria José Laires, Cristina Paula Monteiro, Manuel Bicho. [Frontiers In ...
Molecular basis of copper transport: cellular and physiological functions of Menkes and Wilson disease proteins (ATP7A and ATPB ... Correction of a mouse model of Menkes disease by the human Menkes gene ... Copper-regulated trafficking of the Menkes disease copper ATPase associated with formation of a phosphorylated catalytic ... Thesis entitled: Mutation Analysis of the Menkes Gene. Doctor of Philosophy (Biol & Chem), School of Life and Environmental ...
Retinal Localization and Copper-Dependent Relocalization of the Wilson and Menkes Disease Proteins PDF ... TAGS: copper, genes, menkes kinky hair syndrome, proteins, retina Invest. Ophthalmol. Vis. Sci.. 2006; 47(7):3129-3134. doi: ...
Chelating principles in Menkes and Wilson diseases. Journal of Inorganic Biochemistry 2019; 190: 98 doi: 10.1016/j.jinorgbio. ... Computing the Pathogenicity of Wilsons Disease ATP7B Mutations: Implications for Disease Prevalence. Journal of Chemical ... DIAGNOSIS AND TREATMENT: WILSONS DISEASE . World of Medicine and Biology 2018; 14(66): 117 doi: 10.26724/2079-8334-2018-4-66- ... National alliance for Wilsons disease: health policy in Costa Rica. Hepatology, Medicine and Policy 2017; 2(1) doi: 10.1186/ ...
Structural basis for copper transfer by the metallochaperone for the Menkes/Wilson disease proteins. ...
Menkes, and Wilson diseases. Brain Res. Bull. 2001, 55, 175-185. [Google Scholar] [CrossRef] ... Huntingtons disease (HD), Parkinsons disease (PD), multiple sclerosis, manganism, and Wilsons disease [82,83,84,85,86,87]. ... Today, chronic kidney disease (CKD) has become one of the most prevalent diseases in the world. It is characterized by a ... ATSDR Agency for Toxic Substances and Disease Registry. Toxicological Profile for Cadmium; Agency for Toxic Substances Disease ...
KinkyGeneticATP7BATPasesGeneticsWilson's DiseaseMutationsGeneDisorderProteinsDiagnosisDeficiencyBiochemical abnormalityPathogenesisCeruloplasminGenesDisordersManifestationsPathologyHumansNeurodegenerative diseasesHomeostasisAlzheimer's DiseaseRecessivePatientsMetalsATOX1Neurologic Wilson diseaseAbnormalPrion diseasesInfantsAmyotrophic Lateral SParkinson's DiseaseDanksImbalancesMolecular
- Cultured fibroblasts from Menkes kinky hair disease patients showed markedly reduced succinate dehydrogenase and amine oxidase activities. (springer.com)
- These results indicated that the histochemical phenotype observed in fibroblasts from patients with Menkes kinky hair disease and Wilson's disease were distinctly different from each other and from normal fibroblasts. (springer.com)
- Chan, W. Y., Garnica, A. D. & Rennert, O. M. (1979) Inducibility of metallothionein in biosynthesis in cultured normal and Menkes' kinky hair disease fibroblasts: Effects of copper and cadmium. (springer.com)
- Several points can be made concerning the general care of patients with Menkes kinky hair disease (MKHD) and their families. (medscape.com)
- Thus, the overall risk of a child with Menkes kinky hair disease for a woman who is a documented female carrier is 1 in 4 (25%) for each pregnancy (ie, 1 in 2 chance that the sex is male, multiplied times the 1 in 2 chance that the male inherits the Menkes gene). (medscape.com)
- Concerning pediatric immunizations in infants with Menkes kinky hair disease, no specific contraindications are noted, now that the pertussis component is acellular. (medscape.com)
- Physical and/or occupational therapy is useful stimulation and can maximize developmental attainment in patients with Menkes kinky hair disease. (medscape.com)
- Menkes kinky hair disease has a substantial emotional impact on the family, and psychosocial support often can be valuable. (medscape.com)
- Parents of patients with Menkes kinky hair disease often have the pain of watching the transition from apparent good health to essentially irrevocable illness within the first several months of life. (medscape.com)
- Pneumonia leading to respiratory failure is a common cause of death, although some patients with Menkes kinky hair disease die suddenly in the absence of any acute medical process. (medscape.com)
- Genetic counseling and prenatal diagnosis (when available and desired) can be helpful in preventing Menkes kinky hair disease. (medscape.com)
- However, an estimated one third of all incidents of Menkes kinky hair disease result from new mutations. (medscape.com)
- Reliable prenatal diagnosis of Menkes kinky hair disease on biochemical grounds has been offered by the John F. Kennedy Institute in Glostrup, Denmark, for nearly 25 years. (medscape.com)
- Carrier status must be suspected in a woman and her female relatives (mother, sisters, daughters) following the diagnosis of Menkes kinky hair disease in a son. (medscape.com)
- Knowledge of the gene for Menkes kinky hair disease enables prenatal testing by molecular means for families in which the proband's mutation has been characterized. (medscape.com)
- In the 52 years since the original description of Menkes kinky hair disease (MKHD), advances in understanding the clinical, biochemical, and molecular aspects of this rare disorder of copper metabolism have outstripped progress in the design of effective therapies. (medscape.com)
- [ 1 ] The most promising therapy to date, very early subcutaneous copper injections, has normalized neurodevelopmental outcome in some individuals with Menkes kinky hair disease (approximately 30% in the author's experience) and mitigated the neurologic effects in others. (medscape.com)
- However, some patients with Menkes kinky hair disease (nearly 50% in the author's experience) have not derived substantive benefit from this approach, despite very early institution of treatment. (medscape.com)
- [ 2 ] Knowledge gleaned from such efforts may ultimately suggest the novel therapeutic strategies needed to achieve normal neurologic outcomes in patients with Menkes kinky hair disease regardless of mutation severity. (medscape.com)
- Although early recognition of infants with Menkes kinky hair disease prior to neurologic damage remains a fundamental requirement, the recent advances provide a glimmer of hope in efforts to improve matters for individuals with Menkes kinky hair disease and the families who care for them. (medscape.com)
- Those studies excluded defective copper metabolism as the cause of MS, and Professor David Danks later identified Menkes kinky hair disease as a human example of abnormal myelination due to copper deficiency. (medscape.com)
- Danks' discovery in 1972 was based on his recognition that the unusual hair of infants with Menkes kinky hair disease appeared similar in texture to the brittle wool of sheep raised on copper-deficient soil in Australia, where wool production remained a major industry. (medscape.com)
- [ 5 , 6 ] He measured serum copper in 7 patients with Menkes kinky hair disease and found low levels in all 7 individuals. (medscape.com)
- Subsequent case reports confirmed that Menkes "kinky hair" disease was a newly recognized syndrome with unique clinicopathologic features. (medscape.com)
- Menkes disease , also known as trichopoliodystrophy or Kinky hair kinky vessel syndrome , is an X-linked recessive disorder that results in a derangement in copper handling. (radiopaedia.org)
- Menkes kinky hair syndrome is rare, occurring in 1 case per 300,000 population. (radiopaedia.org)
- Menkes disease or "kinky hair, kinky vessel syndrome" is a multi-systemic disorder with an X linked inheritance, with mutation of the gene ATP7A located on Xq13.3. (radiopaedia.org)
- Menkes kinky hair disease: characteristic MR angiographic findings. (radiopaedia.org)
- Menkes Disease is also characterized by seizures, failure to thrive, subnormal body temperature, and strikingly peculiar hair, which is kinky, colorless or steel-colored, and easily broken. (wikipedia.org)
- Low values of ceruloplasmin are found in Wilson's disease, malnutrition, and Menkes kinky hair syndrome. (greatplainslaboratory.com)
- Ceruloplasmin is low in Menkes kinky hair syndrome (In Menkes syndrome the defect is secondary to poor absorption and utilization of dietary copper. (labcorp.com)
- Menkes is a fatal genetic form of copper deficiency caused by mutations in a copper-transporting ATPase (ATP7A). (clinicaltrials.gov)
- The pedigree of the family strongly suggested that the condition was an X-linked genetic disease. (medscape.com)
- As the number of inherited metabolic diseases that are included in state-based newborn screening programs continues to increase, ensuring the quality of performance and delivery of testing services remains a continuous challenge not only for public health laboratories and other newborn screening facilities but also for biochemical genetic testing laboratories. (cdc.gov)
- Chan, WY et al: (1980) Genetic expression of Wilson's disease in cell culture: A diagnosis marker. (springer.com)
- Aberrant Cu excretion and absorption are manifested in the extremely rare genetic diseases Menkes and Wilson, respectively. (upenn.edu)
- The human diseases Indian childhood cirrhosis and endemic Tyrolean infantile cirrhosis both result from high dietary levels of copper ( 44 , 62 ), whereas Wilson disease occurs due to a genetic mutation that prevents the liver from pumping copper into the bile. (asm.org)
- CUGCs are disease-specific guidelines regarding the clinical utility of genetic testing . (eurogentest.org)
- The clinical and genetic community is invited to submit proposals to EuroGentest to cover a particular disease. (eurogentest.org)
- Wilson's disease, also known as hepatolenticular degeneration, is an autosomal recessive genetic disorder due to a mutation of the ATP7B gene resulting in impaired hepatic copper excretion and copper accumulation in various tissues. (healio.com)
- Wilson Therapeutics AB's lead product is Decuprate, which is a promising therapeutic agent to treat Wilson's disease, a rare genetic disorder that causes copper to accumulate in toxic quantities in the liver, brain, and other tissues. (medicalnewstoday.com)
- 5 ] include several hundred diseases with definite biochemical genetic bases. (iospress.com)
- McKusick's catalog [ 6 ] contains several thousand diseases and disease states whose genetic abnormalities are described or assumed. (iospress.com)
- This two-volume encyclopedia examines the history, characteristics, causes, and treatment of genetic disease, as well as the science of genetics itself. (credoreference.com)
- DNA plays a critical role as the carrier of genetic information, and the DNA damage and repair processes are important in aging and a variety of genetically based diseases, such as cancer. (hopkinsmedicine.org)
- Menkes disease and Wilson's disease are genetic disorders related to abnormal metabolism of which mineral? (coursehero.com)
- Wilson's disease, the most common inherited disorder of copper metabolism, is a recessive genetic condition. (bmj.com)
- Several diseases are linked to copper imbalances, including Menkes disease, a nervous system disorder marked by low levels of copper, and Wilson disease, a genetic disorder in which too much copper is present. (news-medical.net)
- Research projects vary from genetic mapping of rare (Mendelian) disease mutations and characterization of their downstream consequences to the study of common heritable disorders using mouse models as well as genomic and bioinformatic approaches. (uchicago.edu)
- Study of rare genetic disorders has focused broadly on neurological disorders including the spinal muscular atrophies (motorneuron disease), different forms of epilepsy, and Wilson disease, a defect in copper transport that primarily affects the liver, but leads to neuropsychiatric symptoms when toxic levels of copper accumulate in the brain. (uchicago.edu)
- By focusing on genetically tractable disease sub-phenotypes, we hope to gain insight into the genetic architecture of complex human diseases. (uchicago.edu)
- Our current approach uses technology developed by Rzhetsky and coworkers (Medicine and Human Genetics, beginning mid-2007) to first, extract molecular interaction networks from the electronic literature, and second, combine interaction data and genetic linkage data in a common probabilistic framework that allows us to survey disease-related inheritance across groups of interacting genes. (uchicago.edu)
- These observations led to the conclusion that the increased copper content of cultured Menkes cells was characteristic of Menkes disease, resulting from the expression of the genetic abnormality. (mysciencework.com)
- This provides a genetic marker, a defect in metal metabolism demonstrated in human fibroblasts, that should prove valuable in both the diagnosis of Menkes disease and in the study of the fundamental defect of this genetic disorder. (mysciencework.com)
- The deleterious effects of a disrupted copper metabolism are illustrated by hereditary diseases caused by mutations in the genes coding for the copper transporters ATP7A and ATP7B. (uu.nl)
- For instance, mutations in the two Cu + -ATPase genes present in humans, ATP7A and ATP7B, lead to Menkes syndrome and Wilson's disease, respectively ( 8 , 9 ). (pnas.org)
- Deficiency of one of the copper transporters ATP7A and ATP7B leads to the rare X-linked disorder Menkes Disease (MD) or the rare autosomal disorder Wilson disease (WD), respectively. (ruc.dk)
- Wilson disease patients have a defective copy of ATP7b, an ATP-driven copper efflux pump, and hepatocytes are damaged by the high copper levels that result from this defect ( 7 , 58 , 63 , 64 ). (asm.org)
- Wilson disease (WD) is an autosomal recessive disorder of copper metabolism due to ATP7B mutation on chromosome 13q14.3. (ajnr.org)
- Cellular copper levels determine the phenotype of the Arg875 variant of ATP7B/Wilson disease protein. (iiserkol.ac.in)
- The essential role of these Cu transporters was established by the fact that loss of ATP7A function causes Menkes disease and loss of ATP7B function causes Wilson's disease. (aacrjournals.org)
- Wilson disease is a rare autosomal recessive disorder of the copper metabolism caused by homozygous or compound heterozygous mutations in the ATP-ase Cu(2+) transporting polypeptide (ATP7B) gene. (thisisms.com)
- We describe a child with clinical zinc deficiency as presenting symptom of Wilson disease, which was confirmed by 2 mutations within the ATP7B gene and an increased copper excretion. (thisisms.com)
- Diagnostic accuracy of serum ceruloplasmin in Wilson disease: determination of sensitivity and specificity by ROC curve analysis among ATP7B-genotyped subjects. (thefreelibrary.com)
- The latter step is mediated by Cu-dependent ATPases such as ATP7A, the Menkes disease protein, and ATP7B, the Wilson disease protein ( 5 , 31 ). (physiology.org)
- ATP7A and ATP7B are members of the P-type ATPase family of transporters and are the product of genes affected in two disorders of copper homeostasis in humans, Menkes disease and Wilson's disease, respectively ( 25 , 26 ). (aacrjournals.org)
- The 2 related genes ATP7A (MIM 300011) and ATP7B (MIM 606882), responsible for the human diseases Menkes syndrome (MIM 309400) and Wilson disease (MIM 277900), respectively, are involved in copper export. (genetex.com)
- Barnes N, Tsivkovskii R, Tsivkovskaia N, Lutsenko S. The copper-transporting ATPases, menkes and wilson disease proteins, have distinct roles in adult and developing cerebellum. (medlineplus.gov)
- Recently, isolated genes defective in the human hereditary diseases of copper metabolism, namely Menkes syndrome and Wilson's disease, encode P-type ATPases that are more similar to bacterial CadA than to other ATPases from eukaryotes. (nih.gov)
- N-terminal domains of human Cu-transporting ATPases (the Wilson's and Menkes disease proteins) bind Cu selectively in vivo and in vitro with stoichiometry of one Cu per metal-binding repeat. (uchicago.edu)
- Novel components of copper homeostasis include copper-transporting P-type ATPases, Menkes and Wilson proteins, and copper chaperones in humans have been identified and characterized at the molecular level. (eurekaselect.com)
- Cultured fibroblasts from patients with Wilson's disease showed moderately reduced succinate dehydrogenase and cytochrome oxidase activities. (springer.com)
- Chan, W. Y. & Rennert, O. M. (1980a) Comparative study of Menkes' and Wilson's disease. (springer.com)
- Walshe, J. M. (1966) Wilson's disease. (springer.com)
- Wilson's disease: A review of what we have learned. (wjgnet.com)
- Barty, NO et al: (1987) Fepatic copper and metallothionein distribution in Wilson's disease. (springer.com)
- Evans, J., et al: Wilson's disease: (1973) Identification of an abnormal copper-binding protein. (springer.com)
- Sternlieb, I. et al: (1968) Prevention of Wilson's disease in asymptomatic patients. (springer.com)
- Lee, DY et al: (1989) treatment of wilson's disease with zinc: VII. (springer.com)
- Van Den Berg, GJ et al: (1989) Cultured skin fibroblasts: useful for diagnosis of wilson's disease? (springer.com)
- The general pediatrician may be the first to recognize these symptoms and should consider Wilson's disease in their differential diagnosis. (healio.com)
- Wilson's disease (WD), also known as hepatolenticular degeneration, was first described by Samuel Alexander Kinnear Wilson, a British neurologist, in 1912. (healio.com)
- The ion pathway explains why certain Menkes' and Wilson's disease mutations impair protein function and points to a site for inhibitors targeting pathogens. (rcsb.org)
- The clinical presentation of Wilson's disease is very variable. (bmj.com)
- Wilson's disease can be treated successfully but treatment must be life long. (bmj.com)
- Wilson's disease, or hepatolenticular degeneration, is the most widely investigated inborn disorder of copper metabolism. (bmj.com)
- 1 Wilson's disease is characterised by an inadequate excretion of absorbed dietary copper via bile resulting in the accumulation of toxic amounts of copper in the liver and other organs. (bmj.com)
- 3 Wilson's disease is caused by a failure of this excretory pathway, resulting in toxic accumulation of the metal in the liver and eventually in other organs. (bmj.com)
- 5 Wilson's disease is not a cause of mental retardation. (bmj.com)
- Furthermore, copper is found to be associated with hyperzincaemia and hypercalprotectinaemia and Wilson's disease, which are inborn errors of metabolism. (hmdb.ca)
- Her laboratory's research focuses on molecular mechanisms that regulate copper concentration in normal and diseased human cells, with the aim of better understanding copper transport-related disorders such as Menkes disease and Wilson's disease. (bio-medicine.org)
- In Wilson's disease, there is decreased ability to incorporate copper into apoceruloplasmin. (labcorp.com)
- A normal ceruloplasmin does not rule out Wilson's disease. (labcorp.com)
- Laboratory parameters of Wilson's disease include decreased serum ceruloplasmin, decreased serum copper concentration, increased 24-hour urine copper excretion, increased liver copper concentration, and abnormal liver function studies. (labcorp.com)
- Demonstration of failure to incorporate radiolabeled copper into ceruloplasmin is the definitive test for Wilson's disease. (labcorp.com)
- Liver and CNS manifestations of Wilson's disease need not both be present. (labcorp.com)
- An isolated unilateral rest tremor is atypical in Wilson's disease. (thecardiologyadvisor.com)
- Furthermore, Menkes cells could be differentiated from cultured fibroblasts of controls, of presumed heterozygotes, and of Wilson's disease patients by copper concentration. (mysciencework.com)
- Mutations in the ATP7A gene cause Menkes syndrome. (medlineplus.gov)
- In about one-third of cases, Menkes syndrome is caused by new mutations in the ATP7A gene. (medlineplus.gov)
- Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes. (medlineplus.gov)
- Mutations in the ATP7A gene, located on chromosome Xq21.1, leads to Menkes syndrome. (wikipedia.org)
- The putative Cu 2+ -ATPase is a 1,238-amino acid protein, and highly homologous to the Menkes and Wilson disease gene products mutations of which are responsible for human defects of copper metabolism. (elsevier.com)
- Disordered copper metabolism is also implied in an increasing number of other neurological conditions, including a subtype of axonal neuropathy due to ATP7A mutations , and the common late-onset neurodegenerative disorders Alzheimer's disease and Parkinson's disease . (thisisms.com)
- As an X-linked recessive trait, the Menkes gene is transmitted by asymptomatic females who are carriers to 50% of their male offspring (who are affected) and to 50% of their female offspring (who are gene carriers). (medscape.com)
- Identification of the Menkes gene by positional cloning has enabled molecular diagnosis of females who carry the gene and at-risk fetuses in certain families, enhancing preventive efforts. (medscape.com)
- It is more common in males than females, because it only takes one copy of the X-linked recessive gene to be expressed for a male to develop the disease. (wikipedia.org)
- The Saccharomyces cerevisiae mutant with a disrupted CCC2 gene (yeast Menkes/Wilson disease gene homologue) was rescued by the cDNA for the C. elegans Cu 2+ -ATPase but not by the cDNA with an Asp-786 (an invariant phosphorylation site) to Asn mutation, suggesting that the C. elegans Cu 2+ -ATPase functions as a copper transporter in yeast. (elsevier.com)
- The study of these diseases helped elucidate the cellular machinery responsible for the proper acquisition, distribution, and utilization of Cu. Recently Cu has been found to modulate signaling cascades and gene expression signatures in the context of normal physiology as well as the pathophysiology of diseases such as cancer. (upenn.edu)
- You have to inherit an abnormal gene from both parents in order to have the disease, so it's possible to have this condition even without a known family history. (ahealthyme.com)
- Our main purpose is to give users the opportunity to quickly identify diagnostic options according to the different search terms: disease, gene, OMIM number, panel name, provider and Orpha number. (eurogentest.org)
- He was elected for distinguished contributions to the field of stem cell research, particularly using human stem cells for gene targeting and developing new disease models and treatment. (bio-medicine.org)
- Identification of these multigenic patterns of inheritance has proven elusive because the vast number of gene combinations that could lead to disease so dramatically exceeds the number of experimental observations possible in human studies. (uchicago.edu)
- The Wilson disease gene is a copper transporting ATPase with homology to the Menkes Disease gene. (uchicago.edu)
- Menkes disease, involving ATP7A, is a fatal neurodegenerative disorder of copper deficiency. (uu.nl)
- History of this disorder can be traced to as early as 1937, when Australian veterinary scientists recognized the critical role of copper in mammalian neurodevelopment through the association of copper deficiency with demyelinating disease in ataxic lambs. (medscape.com)
- Menkes syndrome is a disorder that affects copper levels in the body. (medlineplus.gov)
- Menkes disease (MNK), also known as Menkes syndrome, is an X-linked recessive disorder that affects copper levels in the body, leading to copper deficiency. (wikipedia.org)
- The disorder was first described by John Hans Menkes in 1962. (wikipedia.org)
- Wilson disease (MIM # 277900), an autosomal recessive disorder of copper transport, is characterized by progressive neurological deterioration and hepatic damage that can be catastrophic if untreated. (thefreelibrary.com)
- With new opportunities in genome science and bioinformatics, research has shifted toward the study of common heritable disorders including autism, bipolar disorder, anxiety disorders, schizophrenia, and Alzheimer's disease. (uchicago.edu)
- Cultured skin fibroblasts from patients with Menkes disease, an X-linked disorder involving a defect in copper metabolism, were analyzed for copper concentration by means of atomic absorption spectrophotometry. (mysciencework.com)
- 3.1 Proteins involved in Parkinson's disease. (wiley.com)
- 4.1 Proteins involved in Alzheimer's disease. (wiley.com)
- These proteins provide an important focus for research, some being involved in bacterial resistance to toxic metals, such as lead and cadmium, while others are involved in inherited human syndromes, such as Wilson's and Menke's diseases. (wikipedia.org)
- He continues to study how problems with myostatin communication contribute to disease progression, and he is exploring how manipulating proteins that interact with myostatin can become beneficial treatments for certain muscle diseases. (hopkinsmedicine.org)
- Furthermore, metal ions such as zinc and copper can interact with both AßPP and Aß to potentiate Alzheimer's disease by participating in the aggregation of these normal cellular proteins and in the generation of reactive oxygen species. (j-alz.com)
- Currently he is investigating the role that proteins and metals have in Alzheimer's disease, Motor Neurone disease and ageing. (edu.au)
- and with protein loss such as the nephrotic syndromes, malabsorption, and with some cases of advanced liver disease in which decreases of serum proteins have occurred. (labcorp.com)
- Chan, W. Y. & Rennert, O. M. (1981) Prenatal and postnatal diagnosis of diseases of copper metabolism. (springer.com)
- Serum intestinal fatty acid-binding protein in the noninvasive diagnosis of celiac disease. (nih.gov)
- Timely diagnosis and early treatment are crucial to prevent permanent damage and to avert disease progression. (thefreelibrary.com)
- Here we report a girl who first presented with an acrodermatitis enteropathica-like eruption and eventually had the diagnosis of Hartnup disease with a normal isoleucine level. (worldwidescience.org)
- The diagnosis of Wilson disease requires a high degree of clinical suspicion, but can be confirmed with simple evaluations. (thecardiologyadvisor.com)
- Because Wilson disease is treatable, but disabling or lethal if missed, it should be considered in the differential diagnosis more than its frequency might suggest. (thecardiologyadvisor.com)
- The occurrence of hemolysis in hepatic disease should always trigger a search for Wilson disease because it is by far the most likely diagnosis. (thecardiologyadvisor.com)
- Based on this connection between copper deficiency and demyelinating disease, neurologists at Oxford in 1948 investigated copper metabolism in a group of patients with multiple sclerosis (MS) , a demyelinating disease of adults. (medscape.com)
- Deficiency is rare, but it can lead to cardiovascular disease and other problems. (medicalnewstoday.com)
- Copper deficiency is rare except in specific conditions, such as Menkes disease. (medicalnewstoday.com)
- The low incidence and the phenotypic variability of human copper toxicosis hamper identification of causal genes or modifier genes involved in the disease pathogenesis. (uu.nl)
- The biological fate of amyloid beta (Aβ) species is a fundamental question in Alzheimer's disease (AD) pathogenesis. (rsc.org)
- For four decades the controversial question concerning a possible role for aluminum neurotoxicity in contributing to the pathogenesis of Alzheimer's disease has been debated, and studies by different investigators have yielded contradictory results. (j-alz.com)
- Metals such as aluminum (Al), copper (Cu), zinc and iron have been implicated in the pathogenesis of Alzheimer's disease (AD). (j-alz.com)
- Despite the circumstantial and sometimes equivocal support, the hypothetic involvement of aluminum (Al) in the etiology and pathogenesis of Alzheimer s disease (AD) has subsisted in neuroscience. (j-alz.com)
- There are very few other examples of scientific hypotheses on the pathogenesis of a disease that have been revisited so many times, once a new method that would allow a test of Al s accumulations in the brain of AD patients or a comparison between Al-induced and AD neuropathological signs has become available. (j-alz.com)
- Menkes syndrome can be diagnosed by blood tests of the copper and ceruloplasmin levels, skin biopsy, and optical microscopic examination of the hair to view characteristic Menkes abnormalities. (wikipedia.org)
- In Wilson disease, copper is not put in ceruloplasmin. (ahealthyme.com)
- If you have Wilson disease, your ceruloplasmin level will probably be below 10 mg/dL. (ahealthyme.com)
- Low ceruloplasmin might also mean Menkes disease. (ahealthyme.com)
- Diseases such as leukemia, Hodgkin lymphoma, primary biliary cirrhosis, and rheumatoid arthritis can also cause a higher ceruloplasmin level. (ahealthyme.com)
- hence, ceruloplasmin is used in evaluation of chronic active hepatitis, cirrhosis, and other liver disease. (labcorp.com)
- This exciting new book opens a window into the causes of debilitating neurological disorders such as Parkinson's disease, CJD and Huntington's disease, and gives indications of the prospects for therapy, based on the understanding of molecular defects involved in these diseases. (wiley.com)
- 1:250,000 (many disorders such as Maple Syrup Urine Disease (branched chain ketoaciduria). (iospress.com)
- Wilson disease and Menkes disease are two major disorders of copper homeostasis. (iiserkol.ac.in)
- These copper chaperones have since been implicated in certain motor neuron disorders and diseases of copper metabolism such as Wilson's and Menkes diseases. (hopkinsmedicine.org)
- Neurodegenerative disorders such as Alzheimer's disease, Parkinson's disease and prion diseases are characterized by alterations of metal ions. (frontiersin.org)
- It is also related to severe diseases such as Wilsons and Menkes diseases and some neurological disorders. (eurekaselect.com)
- The defective collagen contributes to many of the aforementioned connective tissue manifestations of this disease. (wikipedia.org)
- Excess copper is eventually released into the circulation where it can deposit in other organs such as the brain, kidneys, and cornea leading to other clinical manifestations of the disease. (healio.com)
- Bone abnormalities, one of the primary manifestations of Menkes disease (MD), include a weakened bone matrix and low mineral density. (biomedcentral.com)
- The clinical manifestations of Wilson disease can be divided into hepatic, neurologic, and psychiatric presentations. (thecardiologyadvisor.com)
- Reactive oxygen species (ROS) are major sources of oxidative stress playing prominent roles in the development of several pathologies including cardiovascular and neurodegenerative diseases or cancers. (rsc.org)
- Interest in curcumin has increased recently, with ongoing clinical trials exploring curcumin as an anticancer therapy and as a protectant against neurodegenerative diseases. (asm.org)
- Curcumin is a potent bioactive compound that is used to treat cancer ( 5 , 35 ), atherosclerosis ( 33 ), and neurodegenerative diseases, such as Alzheimer's ( 26 , 45 ) and Parkinson's ( 44 ) disease, as well as to promote wound healing ( 15 , 36 ). (asm.org)
- A University of Houston chemist is exploring the link between copper protein molecules in brain cells and neurodegenerative diseases like Alzheimer's. (news-medical.net)
- The knowledge could help them develop new ways to diagnose, monitor, and treat diseases that involve the breakdown of copper homeostasis. (medicalnewstoday.com)
- Therefore, organic compounds that can interfere with copper homeostasis may find therapeutic application in copper-dependent diseases. (eurekaselect.com)
- 4 Alzheimer's Disease. (wiley.com)
- 4.2 Metal involvement in Alzheimer's disease. (wiley.com)
- 4.4 Mitochondrial function in Alzheimer's disease. (wiley.com)
- A copper imbalance has been linked to Alzheimer's disease. (medicalnewstoday.com)
- To date, drug development for Alzheimer's disease (AD) has been largely unsuccessful. (rsc.org)
- Originally, Cu( II ) ion's effects on Aβ have been considered to be the cause of the harmful cross-linking of Aβs, which significantly contributes to the development of Alzheimer's disease. (rsc.org)
- Faulty regulation of copper levels in tissues plays a major role in a wide range of illnesses, including Alzheimer's disease, Parkinson's disease, and motor neuron disease. (medicalnewstoday.com)
- Research has linked the faulty regulation of copper levels to several neurodegenerative illnesses, including Menkes syndrome , motor neuron disease, Parkinson's disease, and Alzheimer's disease. (medicalnewstoday.com)
- A study that Medical News Today reported on in 2013, for example, found that when copper accumulates in the brain, it promotes the development of the beta-amyloid plaques that are the hallmark of Alzheimer's disease. (medicalnewstoday.com)
- The lack of sensitivity to aluminum neurotoxicity in transgenic mouse models of Alzheimer's disease has not allowed this model system to be used to explore important aspects of this toxicity. (j-alz.com)
- The most prominent feature induced by aluminum in rabbit brain is a neurofibrillary degeneration that shares some similarity with the neurofibrillary tangles found in Alzheimer's disease patients. (j-alz.com)
- Research suggests that taking copper by mouth daily for 12 months does not improve symptoms of Alzheimer's disease. (webmd.com)
- Some people with Alzheimer's disease have more copper in their blood than people without the disease. (webmd.com)
- Scientists have studied Alzheimer's disease for 100 years and still no one knows the cause,' said assistant professor of chemistry Tai-Yen Chen, who will use his $1.9 million award from the National Institute of General Medical Sciences to advance his theory that the balance of copper protein within a single cell may be a culprit. (news-medical.net)
- A-beta inhibitor tested in a fly model of Alzheimer's disease. (blogspot.com)
- A novel inhibitor of Aβ peptide aggregation: from high throughput screening to efficacy in an animal model for Alzheimer's disease. (blogspot.com)
- The aim of the present study was to analyze serum metabolomics profiles of patients with Wilson disease compared to healthy subjects, with the goal of identifying differentially abundant metabolites as potential biomarkers for this condition. (springer.com)
- From Sir Garrod's observations of patients with alkaptonuria, albinism, cystinuria, and pentosuria, he developed the concept that certain diseases of lifelong duration arise because an enzyme governing a single metabolic step is reduced in activity or missing altogether [ 4 ]. (iospress.com)
- The morphometric parameters in Wilson disease were compared with those in with healthy controls and among the patients with and without abnormal postural reflex. (ajnr.org)
- The midbrain area was reduced in patients with Wilson disease compared with controls (112.08 ± 27.94 versus 171.95 ± 23.66 mm 2 , P = .002). (ajnr.org)
- By exploring the components in the cell that regulate myostatin, Lee has identified several potential therapeutic targets for diseases like muscular dystrophy and muscle wasting in AIDS patients and the elderly. (hopkinsmedicine.org)
- 25 [micro]mol/day after penicillamine challenge was found to be useful in confirming symptomatic WD patients with active liver disease (sensitivity 92%) but unreliable for excluding WD in asymptomatic siblings (sensitivity 46%) (15). (thefreelibrary.com)
- His team's current focus is on using human pluripotent stem cells, such as iPS cells from healthy donors and patients, to investigate human stem cell biology and diseases. (bio-medicine.org)
- Clinical significance == Like any other plasma protein, levels drop in patients with hepatic disease due to reduced synthesizing capabilities. (wikidoc.org)
- In Biological Aspects of Metals and Metal Related Diseases (edited by Sarkar, B. ), New York: Raven Press (in press). (springer.com)
- download theory of relativity in problems with fourth degrees: Alzheimer's, Menkes, and Wilson metals. (prigsbee.com)
- Metals such as copper, iron and manganese are essential nutrients for virtually all life, however, excess levels or inappropriate handling can lead to cell damage and disease. (hopkinsmedicine.org)
- Since the presence of Al and Cu in drinking water has been shown to adversely affect the progression of AD, these two metals may aggravate some of the events associated with the disease process. (j-alz.com)
- These techniques are being used to unlock the previously enigmatic role of metals in biology and diseases. (edu.au)
- Svetlana Lutsenko, a professor in the Department of Physiology, was elected for distinguished contributions to the field of metals in biology with respect to elucidating the mechanisms of copper transport in health and human disease. (bio-medicine.org)
- Pontomesencephalic involvement is common in neurologic Wilson disease, but there is no prior study evaluating the MR Parkinsonism index and its indices in Wilson disease. (ajnr.org)
- Thirteen individuals with neurologic Wilson disease were included, and their clinical details, including neurologic severity, postural reflex abnormality, and location of signal changes on MR imaging, were noted. (ajnr.org)
- Chorea can have many causes and is not usually present in isolation in neurologic Wilson disease. (thecardiologyadvisor.com)
- An increase in the MR Parkinsonism index in Wilson disease is mainly due to midbrain atrophy and it correlates with neurologic severity and abnormal postural reflex. (ajnr.org)
- It was an unusual finding, and we want to know more about it,' said Chen, who will examine the biological regulation of copper to identify potential causes of diseases marked by abnormal amounts of copper in cells. (news-medical.net)
- [ 7 ] Menkes had reported 5 male infants in a family of English-Irish heritage who were affected with a distinctive syndrome of neurologic degeneration, peculiar hair, and failure to thrive. (medscape.com)
- Stratifying infants with cystic fibrosis for disease severity using intestinal organoid swelling as a biomarker of CFTR function. (nih.gov)
- 3 Parkinson's Disease. (wiley.com)
- 3.2 Metal involvement in Parkinson's disease. (wiley.com)
- 3.3 Risk factors for Parkinson's disease. (wiley.com)
- 3.5 Role of dopamine in Parkinson's disease. (wiley.com)
- Ariel Louwrier discusses the development of pre-formed tau and alpha-synuclein fibrils for research into Alzheimer's and Parkinson's disease. (news-medical.net)
- Or other posts on Parkinson's Disease . (blogspot.com)