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Maroteaux-Lamy syndrome

H A Hack, Rwm Walker, P Gardiner
The mucopolysaccharidoses are a group of inherited metabolic disorders that are renowned for presenting clinical problems, particularly related to cardiac, airway, and skeletal abnormalities, in children during anaesthesia. The changing clinical management of the mucopolysaccharidoses can be described in three phases. An initial phase of accumulation and dissemination of knowledge about the management of this rare disease with a growing recognition that untreated Hurler syndrome and more severe forms of other phenotypes such as Hunter syndrome and Maroteaux-Lamy syndrome were associated with severe complications under anaesthesia...
November 2016: Anaesthesia and Intensive Care
Anusha Uttarilli, Divya Pasumarthi, Prajnya Ranganath, Ashwin B Dalal
MPS VI is an autosomal recessive disorder which occurs due to the deficiency of N-acetyl galactosamine-4-sulfatase (Arylsulfatase B - ARSB) involved in catabolism of dermatan sulfate resulting from disease-causing variations in the ARSB gene. Human Gene Mutation Database (HGMD) search revealed 200 different mutations in ARSB worldwide. In the present study we carried out molecular and functional analyses to characterize the mutations reported by us in Indian population. Mutation analysis of 19 MPS VI patients revealed presence of a total of 15 different mutations of which twelve were novel [p...
January 30, 2017: Gene
Paul Harmatz, Renee Shediac
Mucopolysaccharidosis VI (MPS VI), or Maroteaux-Lamy syndrome, is an autosomal recessive lysosomal storage disorder caused by deficient activity of the enzyme arylsulfatase B (ASB). Progressive accumulation of glycosaminoglycans (GAGs) in organs and tissues leads to the development of multisystem clinical manifestations. The presentation of MPS VI is genotypically and phenotypically diverse, with a large number of potential disease-causing mutations and a phenotypic spectrum ranging from very slowly to very rapidly progressing disease...
January 1, 2017: Frontiers in Bioscience (Landmark Edition)
Chupong Ittiwut, Sukanya Boonbuamas, Chalurmpon Srichomthong, Rungnapa Ittiwut, Kanya Suphapeetiporn, Vorasuk Shotelersuk
OBJECTIVE: Mucopolysaccharidosis type VI (MPS VI; Maroteaux-Lamy syndrome), a rare autosomal recessive lysosomal storage disease, is caused by mutations in the N-acetylgalactosamine-4-sulfatase (arylsulfatase B, or ARSB) gene, resulting in a deficiency of ARSB activity. This study aimed to characterize the clinical and molecular features of four unrelated Thai patients with MPS VI. Two were products of consanguineous marriages. MATERIALS AND METHODS: The diagnosis was confirmed by biochemical and genetic tests...
January 2017: Genetic Testing and Molecular Biomarkers
S Somanadhan, P J Larkin
BACKGROUND: Many rare diseases of childhood are life-threatening and chronically debilitating, so living with a rare disease is an on-going challenge for patients and their families. MPS is one of a range of rare inherited metabolic disorders (IMDs) that come under category 3 of life-limiting conditions, where there is no curative treatment available at present. Although the study of rare diseases is increasingly novel, and of clinical importance to the population, the lack of empirical data in the field to support policy and strategy development is a compelling argument for further research to be sought...
October 10, 2016: Orphanet Journal of Rare Diseases
Ali Al Kaissi, Jochen Hofstaetter, Gerlinde Weigel, Franz Grill, Rudolf Ganger, Susanne Gerit Kircher
INTRODUCTION: A 13-year-old child was clinically diagnosed with mucopolysaccharidosis type VI-Maroteaux-Lamy syndrome (MPS VI) at the age of 5 years, and the diagnosis was confirmed biochemically and genetically (homozygous mutation in ARSB gene). At that time, his older brother manifested with increasing severe mental retardation. His urinary glycosaminoglycan excretion in urine was elevated, but there was only 1 mutation in the ARSB gene defining him as a healthy carrier of MPS VI. The 15-year-old boy was born with dysmorphic facial features, cleft lip and palate, and multiple contractures associated with profound skeletal deformities manifested, severe mental retardation, and seizures, leading to the diagnosis of cerebral palsy from birth on...
August 2016: Medicine (Baltimore)
Christoph Kampmann, Christiane M Wiethoff, Ralf G Huth, Gundula Staatz, Eugen Mengel, Michael Beck, Stefan Gehring, Torsten Mewes, Tariq Abu-Tair
Several different lysosomal storage diseases, mainly mucopolysaccharidosis (MPS) type I, II, and VI, are complicated by severe obstruction of the upper airways, tracheobronchial malacia, and/or stenosis of the lower airways. Although enzyme replacement therapies (ERTs) are available, the impact of these on tracheobronchial alterations has not been reported. By extending the life expectancy of MPS patients with ERTs, airway problems may become more prevalent at advanced ages. These airway abnormalities can result in severe, potentially fatal, difficulties during anesthetic procedures...
July 22, 2016: JIMD Reports
Salvatore Torre, Mauro Scarpelli, Alessandro Salviati, Ebba Buffone, Giuseppe Faggian, Giovanni Battista Luciani
Open-heart operations in patients with mucopolysaccharidoses are exceedingly rare and pose distinct clinical challenges. Few reports exist of valve replacement in type VI mucopolysaccharidosis, mostly entailing combined mitral and aortic valve replacement. Here reported is the case of a young woman with mitral and aortic valve disease, in whom the surgical procedure was confined to the aortic valve. The rationale behind this strategy, particularly in light of the benefits offered by specific enzyme replacement therapy of type VI mucopolysaccharidosis, is discussed...
July 2016: Annals of Thoracic Surgery
Reiter Karl, Schoen Carola, Ensenauer Regina, Nicolai Thomas, Rudolf M Huber
INTRODUCTION: The mucopolysaccharidoses are a group of hereditary disorders pathologically characterized by tissue accumulation of glycosaminoglycans due to deficient lysosomal metabolism which often leads to progressive airway stenosis and respiratory insufficiency. Relentless and treatment-refractory narrowing of the lower airways with ensuing severe limitation of quality of life is a challenging problem in mucopolysaccharidoses. CASE REPORTS: We report 2 cases of MPS (Hunter's and Maroteaux-Lamy's syndrome resp...
April 2016: International Journal of Pediatric Otorhinolaryngology
Marcela Junqueira Brunelli, Álvaro N Atallah, Edina M K da Silva
BACKGROUND: Mucopolysaccharidosis type VI or Maroteaux-Lamy syndrome is a rare genetic disorder caused by the deficiency of arylsulphatase B. The resultant accumulation of dermatan sulphate causes lysosomal damage.The clinical symptoms are related to skeletal dysplasia (i.e. short stature and degenerative joint disease). Other manifestations include cardiac disease, impaired pulmonary function, ophthalmological complications, hepatosplenomegaly, sinusitis, otitis, hearing loss and sleep apnea...
2016: Cochrane Database of Systematic Reviews
M Pineda, M O'Callaghan, A Fernandez Lopez, M J Coll, R Ullot, G Garcia-Fructuoso
Mucopolysaccharidosis type VI (MPS VI) is a progressive, autosomal, recessive lysosomal disorder. This disorder, due to a deficiency in N-acetylgalactosamine-4-sulfatase (ASB), results in an accumulation of glycosaminoglycan (GAG), causing multiple organ failures. In this study, monochorionic biamniotic twins with the severe form of MPS VI underwent enzyme replacement therapy (ERT) with weekly infusions of recombinant human ASB (galsulfase) at 1 mg/kg. After 9 years of ERT, a comprehensive clinical examination was performed...
2016: JIMD Reports
Gustavo Adolfo Giraldo, Paola Ayala-Ramírez, Juan Carlos Prieto, Reggie García-Robles, Johanna Carolina Acosta
INTRODUCTION: Maroteaux-Lamy syndrome, or mucopolysaccharidosis (MPS) type VI, is an autosomal recessive lysosomal storage disease caused by a deficient activity of the enzyme arylsulfatase B (ARSB), required to degrade dermatan sulfate. The onset and progression of the disease vary, producing a spectrum of clinical presentation. So far, 133 mutations have been reported. The aim of this study is to determine the mutations in the ARSB gene that are responsible for this disease in Colombian patients...
February 2016: Meta Gene
Mohamed A Elmonem, Iman G Mahmoud, Dina A Mehaney, Sahar A Sharaf, Sawsan A Hassan, Azza Orabi, Fadia Salem, Marian Y Girgis, Amira El-Badawy, Magy Abdelwahab, Zeinab Salah, Neveen A Soliman, Fayza A Hassan, Laila A Selim
OBJECTIVE: To describe the spectrum, relative prevalence and molecular background of lysosomal storage disorders in Egypt. METHODS: The authors evaluated the selective screening program for the diagnosis of lysosomal storage disorders in Egyptian children presenting to the inherited metabolic disease unit at Cairo University Children's Hospital, the largest tertiary care pediatric hospital in Egypt, over a six-year period (April 2008 through April 2014). During this period, 1,065 suspected children were assessed clinically, biochemically and some genetically...
August 2016: Indian Journal of Pediatrics
Jorge Luis Suarez-Guerrero, Pedro José Iván Gómez Higuera, Juan Sebastian Arias Flórez, Gustavo Adolfo Contreras-García
The mucopolysaccharidoses (MPS) are a group of rare (orphan) diseases, characterised by a deficiency of enzymes involved in the metabolism of glycosaminoglycans (GAGs) at lysosomal level. When there is a deficiency of a particular enzyme there is an accumulation of GAGs in the cells resulting in progressive cellular damage, which can affect multiple organ systems and lead to organ failure. Diagnosis is based on knowledge of the clinical manifestations, performing biochemical analyses to identify the type of GAG that is accumulating, and confirm the type of disorder with the corresponding enzymatic determination...
July 2016: Revista Chilena de Pediatría
Diana Muačević-Kataneć, Ivan Pećin, Iveta Šimić, Ksenija Fumić, Kristina Potočki, Nediljko Šućur, Željko Reiner
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome, MPS VI) is a progressive multisystemic lysosomal storage disease. Physical symptoms generally include growth retardation, and bone dysplasia. Enzyme replacement therapy is the treatment of choice and is done with recombinant version of enzyme N-acetylgalactosamine 4-sulfatase (galsulfase) which is administered intravenously. The enzyme replacement therapy should be applied once a week as a life-long treatment. Division of metabolic diseases, Department of internal medicine, University Hospital Center Zagreb continues with the treatment of MPS VI patients after they turn 18 years of life and are not treated any more by the pediatricians...
July 2015: Lijec̆nic̆ki Vjesnik
Daniel Hansen, Gaddum D Reddy, Aloysia Schwabe, Andrew Jea
No abstract text is available yet for this article.
April 2016: Spine Journal: Official Journal of the North American Spine Society
Berendine J Ebbink, Marion M G Brands, Johanna M P van den Hout, Maarten H Lequin, Robert R J Coebergh van den Braak, Rianne L van de Weitgraven, Iris Plug, Femke K Aarsen, Ans T van der Ploeg
BACKGROUND: It remains unclear to what extent the brain is affected by Maroteaux-Lamy syndrome (MPS VI), a progressive lysosomal storage disorder. While enzyme replacement therapy (ERT) elicits positive effects, the drug cannot cross the blood-brain barrier. We therefore studied cognitive development and brain abnormalities in the Dutch MPS VI patient population treated with ERT. METHODS: In a series of 11 children with MPS VI (age 2 to 20 years), we assessed cognitive functioning and brain magnetic resonance imaging prospectively at the start of ERT and at regular times thereafter up to 4...
March 2016: Journal of Inherited Metabolic Disease
Paula G Franco, María J Pérez, Claudio Aranda, Ana Adamo, Lucas Silvestroff
BACKGROUND: Mucopolysaccharidosis type VI can be screened by measuring the lysosomal arylsulfatase B (ARSB) residual enzyme activity in dried blood spots (DBS) using synthetic substrates. However, we have found experimental obstacles when determining ARSB activity with the fluorescent method due to the significant quenching effect rendered by DBS components. METHODS: We adapted the methods originally described by Chamoles et al. [1] and Civallero et al. [2] and put forward 2 distinct approaches for ARSB activity quantification from DBS samples by measuring the 4-methylumbelliferone (β-MU) fluorescence generated from the ARSB 4-methylumbelliferone sulfate (β-MUS) substrate...
June 15, 2015: Clinica Chimica Acta; International Journal of Clinical Chemistry
Yew Sing Choy, Kaustuv Bhattacharya, Shanti Balasubramaniam, Michael Fietz, Antony Fu, Anita Inwood, Dong-Kyu Jin, Ok-Hwa Kim, Motomichi Kosuga, Young Hee Kwun, Hsiang-Yu Lin, Shuan-Pei Lin, Nancy J Mendelsohn, Torayuki Okuyama, Hasri Samion, Adeline Tan, Akemi Tanaka, Verasak Thamkunanon, Meow-Keong Thong, Teck-Hock Toh, Albert D Yang, Jim McGill
Mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome) is caused by deficient activity of the enzyme, N-acetylgalactosamine-4-sulfatase, resulting in impaired degradation of the glycosaminoglycan dermatan sulfate. Patients experience a range of manifestations including joint contractures, short stature, dysostosis multiplex, coarse facial features, decreased pulmonary function, cardiac abnormalities, corneal clouding and shortened life span. Recently, clinicians from institutions in the Asia-Pacific region met to discuss the occurrence and implications of delayed diagnosis and misdiagnosis of MPS VI in the patients they have managed...
May 2015: Molecular Genetics and Metabolism
Rohit S, Praveen Reddy B, Sreedevi B, Sandeep Prakash
Pycnodysostosis is a rare craniofacial syndrome characterized by dwarfism, cranial anomalies, diffuse osteosclerosis where multiple fracture of long bones and osteomyelitis of jaw are frequent complications. This clinical entity was first described in 1962 by Maroteaux and Lamy. This article presents two clinical cases of pycnodysostosis with their clinical and radiological characteristics.
January 2015: Journal of Clinical and Diagnostic Research: JCDR
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