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Morquio
Morquio syndrome, also known as Mucopolysaccharidosis Type IV (MPS IV), is a rare metabolic disorder in which the body cannot process certain types of sugar molecules called glycosaminoglycans (AKA GAGs, or mucopolysaccharides). In Morquio syndrome, the specific GAG which builds up in the body is called keratan sulfate. This birth defect, which is autosomal recessive, is a type of lysosomal storage disorder. The buildup of GAGs in different parts of the body causes symptoms in many different organ systems. In the US, the incidence rate for Morquio syndrome is estimated at between 1 in 200,000 and 1 in 300,000 live births. Signs and symptoms Patients with Morquio syndrome appear healthy at birth. Types A and B have similar presentations, but Type B generally has milder symptoms. The age of onset is usually between 1 and 3 years of age. Morquio syndrome causes progressive changes to the skeleton of the ribs and chest, which may lead to neurological complications such as nerve ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Luis Morquio
Luis Morquio (September 24, 1867 – June 19, 1935) was a Uruguayan physician and professor. A medical condition, Morquio syndrome (mucopolysaccharidosis IV), is named in his honor. Biography Morquio was born on September 24, 1867 in Montevideo, Uruguay. He grew up in Montevideo and earned a medical degree from the University of the Republic in 1892. He continued his studies in Paris for two years, specializing in pathology. Upon his return to Montevideo, he became the director of an orphanage in 1894. For 40 years, Morquio worked to move away from Uruguay's system of anonymous abandonment of children, helping mothers with alternatives to abandoning their children and helping to preserve the link between mothers and children. In 1900 he became a professor of pediatrics and was promoted to chair of the department. He led the department with distinction for 35 years. Several authors highlight Morquio's work at the Charity Clinic. He felt that babies should be fed their mother's milk, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Galactosamine-6 Sulfatase
N-acetylgalactosamine-6-sulfatase is an enzyme that, in humans, is encoded by the ''GALNS'' gene In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b .... This gene encodes N-acetylgalactosamine-6-sulfatase, which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans keratan sulfate and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. References Further reading * * * * * * * * * * * * * * * * * * * External links * PDBe-KB provides an overview of all the structure information available in the PDB for Human N-acetylgalactosamine-6-sulfatase ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
GALNS
N-acetylgalactosamine-6-sulfatase is an enzyme that, in humans, is encoded by the ''GALNS'' gene In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba .... This gene encodes N-acetylgalactosamine-6-sulfatase, which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans keratan sulfate and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. References Further reading * * * * * * * * * * * * * * * * * * * External links * PDBe-KB provides an overview of all the structure information available in the PDB for Human N-acetylgalactosamine-6-sulfatase ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Elosulfase Alfa
Elosulfase alfa (trade name Vimizim) is a drug for the treatment of Morquio syndrome which is caused by a deficiency in the enzyme N-acetylgalactosamine-6-sulfatase. Elosulfase alfa is a synthetic version of this enzyme. Elosulfase alfa was developed by BioMarin Pharmaceutical Inc. and approved for use in the US by the Food and Drug Administration in 2014. The drug is used in enzyme replacement therapy; a 2014 study confirmed it was effective on young patients with Morquio syndrome type A. Treatment with this medication was most effective upon respiratory symptoms, activities of daily living and growth, as confirmed in a 2015 paper. The cost of elosulfase alfa in some countries is $2,080,000-$6,240,000 a year, which has made it difficult for some health systems to afford it. In June 2019, a Belgian court issued a preliminary injunction forcing BioMarin to continue supplying Vimizim to a young girl suffering from Morquio syndrome free of charge. BioMarin stopped providing the dr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mucopolysaccharidosis
Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosome, lysosomal enzymes needed to break down molecules called glycosaminoglycans (GAGs). These long chains of sugar carbohydrates occur within the Cell (biology), cells that help build bone, cartilage, tendons, corneas, skin and connective tissue. GAGs (formerly called mucopolysaccharides) are also found in Synovial fluid, the fluids that lubricate joints. Individuals with mucopolysaccharidosis either do not produce enough of one of the eleven enzymes required to break down these sugar chains into simpler molecules, or they produce enzymes that do not work properly. Over time, these GAGs collect in the cells, blood and connective tissues. The result is permanent, progressive cellular damage which affects appearance, physical abilities, organ and system functioning. The mucopolysaccharidoses are part of the lysosomal storage disease family, a group of more than 40 genetic disord ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
GLB1
Galactosidase, beta 1, also known as GLB1, is a protein which in humans is encoded by the ''GLB1'' gene. The GLB1 protein is a beta-galactosidase that cleaves the terminal beta-galactose from ganglioside substrates and other glycoconjugates. The ''GLB1'' gene also encodes an elastin binding protein. In corn (''Zea mays''), ''Glb1'' is a gene coding for the storage protein globulin. Clinical significance GM1-gangliosidosis is a lysosomal storage disease that can be caused by a deficiency of β-galactosidase (GLB1). Some cases of Morquio syndrome B have been shown to be due to GLP1 mutations that cause patients to have abnormal elastic fibers. Elastin receptor The RNA transcript of the GLB1 gene is alternatively spliced and produces 2 mRNAs. The 2.5-kilobase transcript encodes the beta-galactosidase enzyme of 677 amino acids. The alternative 2.0- kb mRNA encodes a beta-galactosidase-related protein (S-Gal) that is only 546 amino acids long and that has no enzymatic activ ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
James Frederick Brailsford
James Frederick Brailsford MD, FRCP (8 July 1888 – 28 January 1961) was a British radiologist, known as the founder and first president of the British Association of Radiologists and as the co-discoverer of the Morquio (or Morquio-Brailsford) syndrome. He studied with Sir John Robertson, the Medical Officer of Health of Birmingham. In 1923 Brailsford qualified MB, ChB (Birmingham) and was appointed assistant radiologist to Queen's Hospital, Birmingham. In 1928 he received the higher qualification MD (Birmingham). As a radiologist and a demonstrator in living anatomy, he published in 1934 his famous textbook ''The Radiology of Joints and Bones'' and thereby was acknowledged as one of the world's authorities on skeletal diseases. He received PhD Birmingham (1936) and became MRCS, LRCP (1923), MRCP (1935), and FRCP (1941). Awards and honours *1927 — Robert Jones gold medal of the British Orthopaedic Association The British Orthopaedic Association is a professional associat ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lysosomal Storage Disorder
Lysosomal storage diseases (LSDs; ) are a group of over 70 rare inherited metabolic disorders that result from defects in lysosomal function. Lysosomes are sacs of enzymes within cells that digest large molecules and pass the fragments on to other parts of the cell for recycling. This process requires several critical enzymes. If one of these enzymes is defective due to a mutation, the large molecules accumulate within the cell, eventually killing it. Lysosomal storage disorders are caused by lysosomal dysfunction usually as a consequence of deficiency of a single enzyme required for the metabolism of lipids, glycoproteins (sugar-containing proteins), or so-called mucopolysaccharides. Individually, lysosomal storage diseases occur with incidences of less than 1:100,000; however, as a group, the incidence is about 1:5,000 – 1:10,000. Most of these disorders are autosomal recessively inherited such as Niemann–Pick disease, type C, but a few are X-linked recessively inherited, su ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Keratan Sulfate
Keratan sulfate (KS), also called keratosulfate, is any of several sulfated glycosaminoglycans (structural carbohydrates) that have been found especially in the cornea, cartilage, and bone. It is also synthesized in the central nervous system where it participates both in development and in the glial scar formation following an injury. Keratan sulfates are large, highly hydrated molecules which in joints can act as a cushion to absorb mechanical shock. Structure Like other glycosaminoglycans keratan sulfate is a linear polymer that consists of a repeating disaccharide unit. Keratan sulfate occurs as a proteoglycan (PG) in which KS chains are attached to cell-surface or extracellular matrix proteins, termed core proteins. KS core proteins include lumican, keratocan, mimecan, fibromodulin, PRELP, osteoadherin, and aggrecan. The basic repeating disaccharide unit within keratan sulfate is -3 Galβ1-4 GlcNAc6Sβ1-. This can be sulfated at carbon position 6 (C6) of either or both t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Beta-galactosidase
β-Galactosidase (EC 3.2.1.23, lactase, beta-gal or β-gal; systematic name β-D-galactoside galactohydrolase), is a glycoside hydrolase enzyme that catalyzes hydrolysis of terminal non-reducing β-D-galactose residues in β-D-galactosides. β-Galactosides include carbohydrates containing galactose where the glycosidic bond lies above the galactose molecule. Substrates of different β-galactosidases include ganglioside GM1, lactosylceramides, lactose, and various glycoproteins. Function β-Galactosidase is an exoglycosidase which hydrolyzes the β-glycosidic bond formed between a galactose and its organic moiety. It may also cleave fucosides and arabinosides but with much lower efficiency. It is an essential enzyme in the human body. Deficiencies in the protein can result in galactosialidosis or Morquio B syndrome. In '' E. coli'', the ''lacZ'' gene is the structural gene for β-galactosidase; which is present as part of the inducible system ''lac'' operon which is activ ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Montevideo
Montevideo () is the Capital city, capital and List of cities in Uruguay, largest city of Uruguay. According to the 2011 census, the city proper has a population of 1,319,108 (about one-third of the country's total population) in an area of . Montevideo is situated on the southern coast of the country, on the northeastern bank of the Río de la Plata. The city was established in 1724 by a Spanish soldier, Bruno Mauricio de Zabala, as a strategic move amidst the Spanish people, Spanish-Portuguese people, Portuguese dispute over the La Plata Basin, platine region. It was also under brief British invasions of the Río de la Plata, British rule in 1807, but eventually the city was retaken by Spanish criollos who defeated the British invasions of the River Plate. Montevideo is the seat of the administrative headquarters of Mercosur and ALADI, Latin America's leading trade blocs, a position that entailed comparisons to the role of Brussels in Europe. The 2019 Mercer's report on qual ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Uruguay
Uruguay (; ), officially the Oriental Republic of Uruguay ( es, República Oriental del Uruguay), is a country in South America. It shares borders with Argentina to its west and southwest and Brazil to its north and northeast; while bordering the Río de la Plata to the south and the Atlantic Ocean to the southeast. It is part of the Southern Cone region of South America. Uruguay covers an area of approximately and has a population of an estimated 3.4 million, of whom around 2 million live in the metropolitan area of its capital and largest city, Montevideo. The area that became Uruguay was first inhabited by groups of hunter–gatherers 13,000 years ago. The predominant tribe at the moment of the arrival of Europeans was the Charrúa people, when the Portuguese first established Colónia do Sacramento in 1680; Uruguay was colonized by Europeans late relative to neighboring countries. The Spanish founded Montevideo as a military stronghold in the early 18th century bec ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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