Mucopolysaccharidosis vi. Medical search. FAQ

Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome, is a progressive condition that causes many tissues and organs to enlarge and become inflamed or scarred. (medlineplus.gov)
Mucopolysaccharidosis VI (MPS VI) or Maroteaux-Lamy syndrome (MIM # 253200) is an autosomal recessive lysosomal storage disorder described in 1963 by Dr. Pierre Maroteaux and Dr. Maurice Lamy [ 1 ] and determined by mutations in the arylsulfatase B ( ARSB ) gene located in chromosome 5 (5q13-5q14)[ 2 ]. (pubmedcentralcanada.ca)
Three basic types are recognized: Maroteaux-Lamy syndrome type B Synonym: mucopolysaccharidosis (MPS) VI B A mild type marked by usually normal childhood until about 6 years of age when short stature, Legg-Perthes-like changes of the hips, aortic stenosis, spinal deformities, corneal clouding, survival into adulthood. (rightdiagnosis.com)
The severe type (sometimes designated Maroteaux-Lamy syndrome type A Synonym: mucopolysaccharidosis (MPS) VI A A severe typs usually associated with onset of symptoms in early childhood, a rapidly progressive course, and death in adolescence. (rightdiagnosis.com)
MPS type VI or Maroteaux-Lamy syndrome is an autosomal-recessive syndrome caused by mutations in the lysosomal enzyme arylsulfatase B. A defect in the gene leads to accumulation of nondegraded mucopolysaccharides, resulting in severe cellular dysfunction with multisystem expression. (quintpub.com)
Mucopolysaccharidosis VI (MPS VI)-or Maroteaux-Lamy syndrome-is due to a lack of arylsulfatase B, resulting in incomplete degradation and cellular accumulation of glycosaminoglycans, which leads to cell injury, severe disability and premature death. (bmj.com)
UNLABELLED: The objective of this study was to evaluate the long-term clinical benefits and safety of recombinant human arylsulfatase B (rhASB) treatment of mucopolysaccharidosis type VI (MPS VI: Maroteaux-Lamy syndrome), a lysosomal storage disease. (edu.au)
Mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome) is characterized by the absence or marked reduction in N-acetylgalactosamine 4-sulfatase. (drugbank.ca)
MPS VI , also called Maroteaux-Lamy syndrome, is a very rare genetic disorder in which patients lack an enzyme that is needed to break down complex carbohydrates called glycosaminoglycans (GAGs). (fool.com)
Arylsulfatase B (N-acetylgalactosamine-4-sulfatase, chondroitinsulfatase, chondroitinase, acetylgalactosamine 4-sulfatase, N-acetylgalactosamine 4-sulfate sulfohydrolase, EC 3.1.6.12) is an enzyme associated with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). (wikipedia.org)
A total of eight parents' ( n = 8) of children with a range of MPS disorders aged from 6 months to 22 years (MPS I Hurler syndrome, Scheie syndrome), MPS II (Hunter syndrome), MPS III (Sanfilipo syndrome) and MPS VI (Maroteaux-Lamy syndrome) were interviewed at three time points over a 17 month period. (biomedcentral.com)
Defects in ARSB cause mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). (thefreedictionary.com)
Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy Syndrome, is a lysosomal storage disorder caused by absence or dysfunction of the enzyme arylsulfatase B (N-acetylgalactosamine 4-sulfatase). (egl-eurofins.com)

Mucopolysaccharidosis VI (MPS VI) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B leading to the accumulation of dermatan sulfate. (pubmedcentralcanada.ca)
Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. (ufrgs.br)
Background: Mucopolysaccharidosis type-VI (MPS-VI), which is inherited as an autosomal recessive trait, results from the deficiency of N-acetylgalactosamine 4-sulfatase (arylsulfatase B) activity and the lysosomal accumulation of dermatan sulfate. (ac.ir)
Mucopolysaccharidosis Type VI is a lysosomal storage disease caused by a deficiency of N-acetylgalactosamine-4-sulfatase (4S). (labogen.com)
This deficiency is caused by two different mutations in the 4S-gene, resulting in a clinically mild and a severe MPS VI phenotype. (labogen.com)
Mucopolysaccharidosis VI (or Maroteaux-Lamy disease ) is a form of mucopolysaccharidosis caused by a deficiency in arylsulfatase B (ARSB). (chemeurope.com)
The feline mucopolysaccharidosis (MPS) is a group of lysosomal storage disorders in cats that involve the deficiency of specific enzymes required for the degradation of glycosaminoglycans (GAG). (animalabs.com)
Feline mucopolysaccharidosis VI is characterized by a deficiency of N-acetylgalactosamine 4-sulfatase (4S), which leads to the lysosomal accumulation and urinary excretion of the GAG dermatan sulfate (DS) (1). (animalabs.com)
Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate. (cdc.gov)
OMIM 253010), based on a deficiency of different lysosomal enzymes-N-acetylgalactosamine-6-sulfate sulfatase (GALNS) and β-galactosidase, respectively. (medscape.com)
GALNS deficiency induces the accumulation of glycosaminoglycans (GAGs), keratan sulfate (KS), and chondroitin-6-sulfate (C6S) in multiple tissues, particularly bone, cartilage, heart valves, and cornea, while β-galactosidase deficiency induces the accumulation of only KS in those tissues. (medscape.com)
In 1974, GALNS enzyme and its deficiency were discovered and identified using oligosaccharide substrate prepared from C6S containing N-acetylgalactosamine-6-sulfate. (medscape.com)
Canine Mucopolysaccharidosis I (MPS I) is a condition caused by the deficiency of alpha-L-iduronidase and is most similar to human MPS type I. MPS I is associated with significant cervical spine disease, including vertebral dysplasia, odontoid hypoplasia, and accelerated disc degeneration , leading to spinal cord compression and scoliosis . (gopetsamerica.com)
Canine Mucopolysaccharidosis VII is a condition caused by a deficiency of beta-glucuronidase which involves skeletal and joint abnormalities. (gopetsamerica.com)
Morquio A syndrome, or MPS IVA, results from a deficiency in the enzyme galactosamine (N-acetyl)-6-sulfatase (GALNS). (everydayhealth.com)
Galactosimane-6-sulfatase, MPS IV, Mucopolysaccharidosis and Beta Galactosidase Deficiency. (prezi.com)
It is an autosomal recessively inherited disease caused by a deficiency in the enzyme arylsulfatase B. When the normal canine arylsulfatase gene sequence is know, the mutation responsible for MPS VI in the Miniature Pinscher as well as other breeds can be determined and it will be possible to develop genetic tests. (akcchf.org)
An arylsulfatase B deficiency can lead to an accumulation of GAGs in lysosomes, which in turn can lead to mucopolysaccharidosis VI. (wikipedia.org)
The mucopolysaccharidoses (MPSs) are a group of 11 distinct metabolic disorders that result from the deficiency of the various lysosomal enzymes required to degrade the glycosaminoglycans (GAGs) that constitute a major component of the extracellular matrix, joint fluid and connective tissue. (els.net)
The deficiency of any one of 11 acid hydrolases, required to normally degrade the glycosaminoglycans, gives rise to the group of lysosomal storage disorders known as the mucopolysaccharidoses. (els.net)
The mucopolysaccharidoses (MPS) are a heterogeneous group of inherited metabolic disorders, each associated with a deficiency in one of the enzymes involved in glycosaminoglycan (GAG) catabolism. (biomedcentral.com)
Mucopolysaccharidoses (MPS) represent a heterogeneous group of genetic lysosomal storage disorders caused by the deficiency of enzymes catalyzing the degradation of glycosaminoglycans (previously known as mucopolysaccharides). (news-medical.net)
Hematopoietic stem cell transplantation (HSCT) has been used in patients with mucopolysaccharidosis in order to correct the enzyme-deficiency. (news-medical.net)

Naglazyme reduced the excess carbohydrates (glycosaminoglycans, or 'GAGs') that are excreted in the urine of patients with MPS VI, an indication of enzymatic bioactivity. (ptcommunity.com)
Mucopolysaccharidosis (MPS) is a group of rare metabolic diseases characterized by intralysosomal accumulation of glycosaminoglycans. (quintpub.com)
Efficacy was evaluated by (1) distance walked in a 12-minute walk test (12MWT) or 6-minute walk test (6MWT), (2) stairs climbed in the 3-minute stair climb (3MSC), and (3) reduction in urinary glycosaminoglycans (GAG). (edu.au)
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. (wikipedia.org)
The mucopolysaccharidoses are a heterogeneous group of inherited lysosomal storage disorders, characterized by the accumulation of undegraded glycosaminoglycans in various organs, leading to tissue damage. (springer.com)
Mucopolysaccharidoses (MPSs), which are inherited lysosomal storage disorders caused by the accumulation of undegraded glycosaminoglycans, can affect the central nervous system (CNS) and elicit cognitive and behavioral issues. (springer.com)
This gene encodes a hydrolase that degrades glycosaminoglycans, including heparan sulfate, dermatan sulfate, and chondroitin-4,6-sulfate. (genecards.org)
To describe the profile of joint mobility and grip and pinch strength of MPS VI patients and to correlate this with urinary excretion of glycosaminoglycans (GAGs), ARSB activity, and the distance covered in a 6-minute walking test (6MWT). (scielo.br)
The genetic mucopolysaccharidoses (MPS) are a family of lysosomal storage diseases resulting from defective catabolism of glycosaminoglycans (GAGs). (semanticscholar.org)
Ear, nose, and throat (ENT) manifestations in mucopolysaccharidosis (MPS) are due to the accumulation of glycosaminoglycans (GAGs) in the head and neck region. (biomedcentral.com)

NOVATO, Calif., June 1 /PRNewswire-FirstCall/ -- BioMarin Pharmaceutical Inc. (Nasdaq and SWX: BMRN) announced today that the U.S. Food and Drug Administration (FDA) has granted marketing approval for Naglazyme(TM) (galsulfase), the first specific therapy approved for the treatment of mucopolysaccharidosis VI (MPS VI). (ptcommunity.com)
Clarke LA (2008) Idursulfase for the treatment of mucopolysaccharidosis II. (els.net)
and Vimizim, an enzyme replacement therapy for the treatment of mucopolysaccharidosis IV Type A, a lysosomal storage disorder. (yahoo.com)
Before the advent of therapies targeting the deficient enzyme activity, the treatment of mucopolysaccharidosis was predominantly focused on the prevention and care of complications, which still represents a very important aspect in the management of these patients. (news-medical.net)

I have observed the positive effect that enzyme replacement therapy with Naglazyme can have on MPS VI patients, and I am very pleased that it will soon be made commercially available to those who need it," stated Paul Harmatz, M.D., Associate Director of the Pediatric Clinical Research Center at Children's Hospital & Research Center at Oakland, California, and Principal Investigator of the Phase 3 clinical trial of Naglazyme. (ptcommunity.com)
There are several indigenous patients with mucopolysaccharidosis VI currently receiving enzyme replacement therapy. (bmj.com)
A followup study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years, Mol. (edu.pl)
We conclude that AAV-mediated expression of ARSB from liver represents a feasible therapeutic strategy for MPS VI, potentially avoiding multiple infusions of costly recombinant enzyme associated with enzyme replacement therapy. (elsevier.com)
Hopwood, John J. / Enzyme replacement therapy in mucopolysaccharidosis VI : Evidence for immune responses and altered efficacy of treatment in animal models . (sahmriresearch.org)
Muenzer J (2014) Early initiation of enzyme replacement therapy for the mucopolysaccharidoses. (springer.com)
Enzyme replacement therapy for murine mucopolysaccharidosis type VII. (semanticscholar.org)
2010) Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long‐term pulmonary function in patients treated with recombinant human N‐acetylgalactosamine 4‐sulfatase. (els.net)
The year prior, the U.S. Food and Drug Administration (FDA) approved an enzyme replacement therapy specifically for MPS VI. (macleans.ca)
Four orphan drugs on the market led by Naglazyme® (galsulfase), an enzyme replacement therapy for mucopolysaccharidosis VI (MPS VI). (genengnews.com)
Enzyme replacement therapy (ERT) for MPS VI has been approved by the FDA and is available for treatment of this disorder. (egl-eurofins.com)
Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy. (egl-eurofins.com)
Clinical Sensitivity: In 7 patients undergoing enzyme replacement therapy for MPS VI, 13 mutations were identified, giving a detection rate of 93% . (egl-eurofins.com)
Following the success of enzyme replacement therapy (ERT) for the treatment of Gaucher disease (another type of lysosomal storage disorder), this method was also developed for mucopolysaccharidosis. (news-medical.net)

The immunological response by Mucopolysaccharidosis type VI (MPS VI) cats to recombinant human N-acetylgalactosamine 4-sulfatase (rh4S) ERT has been investigated. (sahmriresearch.org)

Mutations in the ARSB gene cause MPS VI. (medlineplus.gov)
Patient has laboratory results confirming a diagnosis of MPS VI disease based on detection of deficient ARSB activity (on fibroblasts, leucocytes or dried blood spots)and/or abnormality on the ARSB gene. (clinicaltrials.gov)
Mucopolysaccharidosis type VI (MPS VI) is a rare autosomal recessive lysosomal storage disorder determined by mutations in the arylsulfatase B gene (ARSB). (clinpharm-journal.ru)
Mucopolysaccharidosis VI (MPS VI) is caused by deficient activity of arylsulfatase B (ARSB), resulting in intralysosomal storage of dermatan sulfate (DS) and multisystem disease without central nervous system involvement. (elsevier.com)
We have injected newborn MPS VI rats and cats with adeno-associated viral (AAV) vectors expressing ARSB under the control of liver-specific, muscle-specific, or universally active promoters. (elsevier.com)
After systemic or intramuscular (IM) administration of AAV, therapeutic levels of circulating ARSB are achieved, resulting in skeletal improvements and significant decrease in glycosaminoglycan (GAG) storage, inflammation and apoptosis (despite a neutralizing immune response to ARSB in MPS VI rats). (elsevier.com)
Årsaken til MPS VI er arvelige forandringer (mutasjoner) i genet ARSB, som koder for produksjonen av enzymet N-acetylgalaktosaminsulfatase (også kalt arylsulfatase B). Dette enzymet er nødvendig for nedbrytningen av mukopolysakkaridet (glukosaminoglykanet, GAG'et) dermatansulfat inne i kroppens celler. (frambu.no)
Diagnostic sequencing analysis of the ARSB gene coding region is available for MPS VI patients and their at-risk relatives on a clinical basis. (egl-eurofins.com)

The recombinant protein is comprised of 495 amino acids and contains six asparagine-linked glycosylation sites, four of which carry a bis mannose-6-phosphate manose7 oligosaccharide for specific cellular recognition. (drugbank.ca)
Galsulfase uptake by cells into lysosomes is most likely mediated by the binding of mannose-6-phosphate-terminated oligosaccharide chains of galsulfase to specific mannose-6-phosphate receptors. (drugbank.ca)
We believe BMN-701 has the potential to possibly deliver more enzyme to lysosomes compared to traditional mannose-6-phosphate targeted approaches using the recently acquired GILT technology. (bio-medicine.org)

To further characterize the natural progression of MPS VI disease, irrespective of treatment modality and to evaluate efficacy and safety treatment with Galsulfase. (clinicaltrials.gov)
Mucopolysaccharidosis type VI, enzymereplacement therapy, galsulfase. (clinpharm-journal.ru)
Galsulfase is an enzyme, prescribed for Mucopolysaccharidosis VI. (medindia.net)

Carpal tunnel syndrome develops in many children with MPS VI and is characterized by numbness, tingling, and weakness in the hands and fingers. (medlineplus.gov)
MPS VI, or Maroteauz-Lamy syndrome, resembles Hurler syndrome. (rightdiagnosis.com)
This paper presents a series of seven patients with MPS VI, with the description of the general clinical manifestations and focus on the still rarely studied oral manifestations of the syndrome. (quintpub.com)
Morquio syndrome (mucopolysaccharidosis type IV [MPS IV]) is a rare lysosomal storage disease (LSD) that is inherited in an autosomal-recessive fashion. (medscape.com)
[ 3 ] In 1965, McKusick et al classified Morquio syndrome, as well as Hurler and Hunter syndromes, as hereditary acid mucopolysaccharidoses (MPS I to MPS VI). (medscape.com)
Musculoskeletal complications associated with lysosomal storage disorders: Gaucher disease and Hurler-Scheie syndrome (mucopolysaccharidosis type I), Curr. (edu.pl)
Also known as MPS IV, Morquio syndrome is part of a group of diseases called mucopolysaccharidosis (MPS). (everydayhealth.com)
Mucopolysaccharidosis-Plus Syndrome, also known as mucopolysaccharidosis , is related to mucopolysaccharidosis, type ii and mucopolysaccharidosis, type iva . (malacards.org)
An important gene associated with Mucopolysaccharidosis-Plus Syndrome is VPS33A (VPS33A Core Subunit Of CORVET And HOPS Complexes), and among its related pathways/superpathways are Glycosaminoglycan degradation and Lysosome . (malacards.org)
2006) Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). (els.net)
Storage syndrome is present in several LSDs, especially mucopolysaccharidoses (MPSs). (neurologyadvisor.com)
1 In the past 25 years, nearly a thousand patients with these types of storage disorders, including mucopolysaccharidosis (MPS) type I (Hurler syndrome), other MPS, adrenoleukodystrophy (ALD), metachromatic leukodystrophy (MLD), Krabbe disease, and others have received allogeneic hematopoietic stem cell transplantation (HSCT) with bone marrow from matched or mismatched related donors who were either carriers or noncarriers of the disease, resulting in clinical benefit in many of them. (bloodjournal.org)

He also worked on rare lysosomal storage disease mechanisms including mucopolysaccharidosis (MPS) and Farber disease. (exponent.com)

Pathogenic mutations of this gene result in reduced or absent activity of the enzyme arylsulfatase B. We present 5 adult patients (aged 20 to 33 years) with MPS VI that was diagnosed at the age of 7 to 30 years. (clinpharm-journal.ru)
Mucopolysaccharidosis VI severe (MPSVIs) and mild (MPSVIm) are lysosomal storage diseases resulting from two independent mutations in the gene for enzyme N-acetylgalactosamine 4-sulfatase (4S). (mountainforkmainecoons.com)
Publications] Nakashima Y.: 'Mucopolysaccharidosis IVA:molecular cloning of the human N-acetylgalactosamine-6-sulfatase gene (GALNS) and analysis of the 5'-flanking region. (nii.ac.jp)
N-acetylgalactosamine-6-sulfatase is an enzyme that, in humans, is encoded by the GALNS gene. (wikipedia.org)
Mutations in this gene result in mucopolysaccharidosis type VII. (genecards.org)
Gene therapy ameliorates cardiovascular disease in dogs with mucopolysaccharidosis VII. (semanticscholar.org)
Therapeutic neonatal hepatic gene therapy in mucopolysaccharidosis VII dogs. (semanticscholar.org)
2006) Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C). American Journal of Human Genetics 79: 738-744. (els.net)
However, for some LSDs the causative gene of the defected enzyme is located on the X chromosome, resulting in an X-linked inheritance pattern (Fabry disease and mucopolysaccharidosis type 2). (neurologyadvisor.com)

Other product candidates include GALNS (N-acetylgalactosamine 6-sulfatase), which is currently in clinical development for the treatment of MPS IVA and PEG-PAL (PEGylated recombinant phenylalanine ammonia lyase), which is currently in Phase II clinical development for the treatment of PKU. (bio-medicine.org)

As the first drug ever approved for MPS VI, Naglazyme has been granted orphan drug status in the United States, which confers seven years of market exclusivity. (ptcommunity.com)
Naglazyme is indicated for patients with MPS VI. (ptcommunity.com)
Clinical trials have demonstrated that Naglazyme provides clinically important benefits for MPS VI patients, specifically, improved endurance as demonstrated by the 12-minute walk test and 3-minute stair climb. (ptcommunity.com)
With Naglazyme now approved, physicians, for the first time, have a therapeutic to treat the underlying cause of MPS VI, increasing their ability to provide better care for MPS VI patients with this life-threatening disease. (ptcommunity.com)
The approval of Naglazyme is a significant milestone for those whose life has been affected by MPS VI and for BioMarin," stated Jean-Jacques Bienaime, Chief Executive Officer of BioMarin. (ptcommunity.com)
Naglazyme holds a very real possibility for making MPS VI a more manageable disease. (ptcommunity.com)
I would like to thank the individuals with MPS VI and their families and physicians as well as BioMarin employees for their years of hard work and dedication toward making Naglazyme for MPS VI a reality. (ptcommunity.com)
Treatment for MPS VI with galsufase (Naglazyme) was introduced in 2005 in the USA, and a year later in Europe, and has been approved by the FDA and EMA, the American and European agencies, respectively. (bmj.com)

Cervical cord compression in mucopolysaccharidosis VI (MPS VI): Findings from the MPS VI Clinical Surveillance Program (CSP). (clinicaltrials.gov)
At present, a great number of Brazilian medical centers from all regions of the country have experience with ERT for MPS I, II, and VI, acquired not only through patient treatment but also in clinical trials. (ufrgs.br)
Clinical burden of hip disease was evaluated by physical examination, six minute walking test (6MWT) and a questionnaire assessing pain, wheelchair-dependency and walking distance.A total of 157 pelvic radiographs of 14 ERT treated MPS VI patients were evaluated. (eur.nl)
Wraith JE (1995) The mucopolysaccharidoses: a clinical review and guide to management. (springer.com)
Ribeiro EM, Fonteles CS, Freitas AB, da Silva Alves KS, Monteiro AJ, da Silva CA (2015) A clinical multicenter study of orofacial features in 26 Brazilian patients with different types of mucopolysaccharidosis. (springer.com)
1998. Two mutations within a feline mucopolysaccharidosistType VI colony cause three different clinical phenotypes. (mountainforkmainecoons.com)
Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI, Clin. (edu.pl)
Fifty-six patients derived from 3 clinical studies were followed in open-label extension studies for a total period of 97-260 Weeks. (edu.au)
The fact that restricted shoulder flexion was not correlated with age suggests that this finding is present early on in MPS VI and that it constitutes an important clinical sign that should arouse diagnostic suspicion of this disease. (scielo.br)
1987) Clinical application of a new simple method for the identification of mucopolysaccharidoses. (els.net)
Mucopolysaccharidosis Type VI: Structural and Clinical Implication of Mutations in N-Acetylgalactosamine-4-Sulfatase. (egl-eurofins.com)
Confirmation of a clinical diagnosis of MPS VI (Maroteaux-Lamy). (egl-eurofins.com)

Defective enzyme activity leads to the different types of mucopolysaccharidosis (MPS) indicated in green. (els.net)

Heart disease and airway obstruction are major causes of death in people with MPS VI. (medlineplus.gov)
All patients with a confirmed diagnosis of MPS VI disease may participate in the CSP. (clinicaltrials.gov)
The disease burden of MPS VI is enormous for patients, families and physicians. (ptcommunity.com)
Mucopolysaccharidosis VI is listed as a " rare disease " by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). (rightdiagnosis.com)
The presence of a mucopolysaccharidosis-like disease in indigenous ethnic groups in Colombia can be inferred from archaeological findings. (bmj.com)
Lack of data on the course of hip disease in MPS VI make decisions regarding necessity, timing and type of surgical intervention difficult. (eur.nl)
Mechanism of glycosaminoglycan-mediated bone and joint disease: implications for the mucopolysaccharidoses and other connective tissue diseases, Am. J. Pathol. (edu.pl)
Peck SH, Casal ML, Malhotra NR et al (2016) Pathogenesis and treatment of spine disease in the mucopolysaccharidoses. (springer.com)
5 Puppies with MPS I appear normal at birth and remain generally healthy for 4-6 months and then show stunted growth, corneal clouding, and progressive, degenerative, noninflammatory joint disease. (gopetsamerica.com)
6 Because of the inherited nature of this disease, affected animals should not be bred. (gopetsamerica.com)
This 3-year-old albino Chihuahua-miniature Pinscher suffers from a disease known as MPS VI (mucopolysaccharidoses). (boredpanda.com)
Willoughby CE, Ponzin D, Ferrari S, Lobo A, Landau K, Omidi Y (2010) Anatomy and physiology of the human eye: effects of mucopolysaccharidoses disease on structure and function-a review. (springer.com)
Similarly, mucopolysaccharidosis type VI (MPS VI) is a disease that causes hip and patellar abnormalities. (akcchf.org)
Since MPS VI and Legg-Calve-Perthes disease have both been diagnosed in Miniature Pinschers and both cause skeletal defects, we hypothesize that at least a subset, if not all, Miniature Pinschers with Legg-Calve-Perthes disease in fact have MPS VI. (akcchf.org)
We propose to develop a genetic test for MPS VI in the Miniature Pinscher and other breeds and to identify individuals with Legg-Calve-Perthes disease to see if they test as normal, carrier or affected in the MPS VI test. (akcchf.org)
In 2006, Andrew McFadyen's son Isaac was diagnosed with mucopolysaccharidosis (MPS) VI, a rare and progressive genetic disease. (macleans.ca)

Conditions such as MPS VI that cause molecules to build up inside the lysosomes are called lysosomal storage disorders. (medlineplus.gov)
Mucopolysaccharidosis (MPS) is a general term for many different related inherited disorders that are caused by the accumulation of mucopolysaccharides in body tissues. (healthofchildren.com)
As I mentioned in a previous article , drug development efforts to treat patients with MPS VI and related disorders have been the strategic focus for companies like BioMarin Pharmaceutical (NASDAQ:BMRN) , Genzyme (NASDAQ:GENZ) , and Transkaryotic Therapies (NASDAQ:TKTX) . (fool.com)
Interestingly, if not surprisingly, six of the seven companies focus on cancer drug development, with eye disorders, inflammation, and myelofibrosis among other treatment specialties of the potential takeover targets. (genengnews.com)

Chorionic villus sampling is performed around week 9 of pregnancy and has become increasingly popular for the diagnosis of mucopolysaccharidosis (MPS). (medscape.com)
Diagnosis of mucopolysaccharidosis is made by physical examination, blood tests, and radiographic X-rays of the skeletal system. (gopetsamerica.com)

In this article, we review the neuroimaging manifestations of the different types of mucopolysaccharidoses including the dysostosis multiplex of the skull and spine as well as the various central nervous system complications. (springer.com)
Deafness, both sensorineural or conductive, is seen in all types of mucopolysaccharidoses, including MPS VI. (egl-eurofins.com)

The mucopolysaccharidoses are a group of 11 important lysosomal storage diseases caused by deficient activity of enzymes associated with the lysosomal degradation of one, or sometimes several GAGs. (gopetsamerica.com)
58 MPSPS is an autosomal recessive inborn error of metabolism resulting in a multisystem disorder with features of the mucopolysaccharidosis lysosomal storage diseases (see, e.g., 607016). (malacards.org)

Mucopolysaccharidosis with excessive CHONDROITIN SULFATE B in urine, characterized by dwarfism and deafness. (curehunter.com)
Cats with MPS VI which show the severe phenotype exhibit dwarfism and facial dysmorphia due to. (labogen.com)

The reactivity by cats to rh4S did not appear to be just due to species cross reactivity, as plasma antibodies from normal control, MPS VI and MPS VI ERT cats reacted equally with feline and human 4-sulfatase. (sahmriresearch.org)

Triggs-Raine B, Salo TJ, Zhang H et al (1999) Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX. (springer.com)
19 However, some mutations that were found in a specific breed, such as mucopolysaccharidosis in the Siamese, 20,21 were found in a specific individual, and the mutation is not of significant prevalence in the breed ( Table 2 ). (vin.com)

There are five different types of GAGs: chondroitin 4-sulphate, chondroitin 6-sulphate, heparan sulphate, dermatan sulphate, and keratan sulphate. (gopetsamerica.com)

Mucopolysaccharidosis VI is an autosomal recessive lysosomal storage disorder associated with severe disability and premature death. (bmj.com)
They have autosomal-recessive transmission with the exception of mucopolysaccharidosis II, which is X-linked. (springer.com)
MPS VI følger autosomal recessiv arvegang. (frambu.no)
Ved autosomal recessiv (vikende) arvegang vil en person med en sykdomsgivende genetisk forandring (mutasjon) i ett av de to genene ikke bli syk. (frambu.no)

Increased catabolism of GAG in turn reduces systemic dermatan sulfate accumulation, thereby reducing the primary symptoms of MPS VI. (drugbank.ca)
In MPS VI, insufficient enzyme activity is available and the degradation of dermatan sulfate is blocked, leading to accumulation of this substrate in the lysosomes of several tissues. (egl-eurofins.com)

MPS VI causes various skeletal abnormalities, including short stature and joint deformities (contractures) that affect mobility. (medlineplus.gov)
Four patients were partially wheelchair-dependent and ten patients had limitations in their maximum walking distance.In conclusion, clinically significant hip abnormalities develop in all MPS VI patients from very early in life, starting with deformities of the os ilium and acetabulum. (eur.nl)
The severe MPS VI phenotype is characterized by growth retardation, coarse facial features, joint stiffness, corneal clouding, skeletal deformities, and organ and soft tissue involvement in cats. (animalabs.com)

Our efforts to identify individuals with MPS VI in the years leading up to this day have positioned us to rapidly get patients on therapy come product launch. (ptcommunity.com)
We therefore studied the development of hip pathology in MPS VI patients over time.Data were collected as part of a prospective follow-up study. (eur.nl)
The final shape and angle of the femoral head differs significantly between individual MPS VI patients and is difficult to predict. (eur.nl)
The aims of this study were to analyze the maxillomandibular morphology of patients with mucopolysaccharidosis (MPS) type I, II, III, IVa and VI and to evaluate the craniofacial effect of hematopoietic stem cell transplantation (HCST) in MPS I. (springer.com)
D486V] in three unrelated Iranian MPS-VI patients with different phenotype severity. (ac.ir)
Cognitive impairment is not usually seen in MPS VI patients. (thinkgenetic.com)
The aim of the study was to describe the natural history, anthropometric features, range of motion (ROM) and molecular characteristics of Polish patients with mucopolysaccharidosis (MPS) VI. (edu.pl)
This was an observational study of 28 patients with MPS VI, who had not undergone specific treatment. (scielo.br)
Many complications of mucopolysaccharidoses require surgery, although its burden is often very high for patients with severe somatic involvement. (news-medical.net)

The central nervous system does not appear to be affected, even in individuals with clinically severe MPS VI. (animalabs.com)

Hip problems in Mucopolysaccharidosis type VI (MPS VI) lead to severe disability. (eur.nl)
Cats with 2 copies of the severe form show signs at 6-8 weeks of age that include wide faces, shortened noses, small ears, reduced flexibility and retarded growth compared to unaffected littermates. (mountainforkmainecoons.com)

An improved method has been developed for the detection of heterozygotes for feline and human mucopolysaccharidosis VI. (curehunter.com)

They often begin to show signs and symptoms of MPS VI during early childhood. (medlineplus.gov)
The life expectancy of individuals with MPS VI depends on the severity of symptoms. (medlineplus.gov)
More detailed information about the symptoms , causes , and treatments of Mucopolysaccharidosis VI is available below. (rightdiagnosis.com)
This then leads to tissue and organ damage, and the symptoms of MPS VI. (thinkgenetic.com)
Shapiro EG, Jones SA, Escolar ML (2017) Developmental and behavioral aspects of mucopolysaccharidoses with brain manifestations-neurological signs and symptoms. (springer.com)

Moore D, Connock MJ, Wraith E, Lavery C (2008) The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK. (springer.com)

Bone marrow transplantation for feline mucopolysaccharidosis I. (semanticscholar.org)
Cardiac involvement in mucopolysaccharidoses: effects of allogeneic bone marrow transplantation. (semanticscholar.org)
The first successful treatment for mucopolysaccharidoses was bone marrow transplantation, which was introduced for the therapy in 1980. (news-medical.net)

Clarke LA (2011) Pathogenesis of skeletal and connective tissue involvement in the mucopolysaccharidoses: glycosaminoglycan storage is merely the instigator. (springer.com)

Mild feline mucopolysaccharidosis type VI. (animalabs.com)
Noen regner mild og alvorlig sykdom som to ulike former for MPS VI, men alle tilfellene har samme sykdomsårsak og representerer sannsynligvis de to ytterpunktene av et spekter som omfatter aller grader av sykdommen. (frambu.no)

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