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Mucopolysaccharidose

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https://www.readbyqxmd.com/read/29157190/mucopolysaccharidosis-type-vi-in-a-great-dane-caused-by-a-nonsense-mutation-in-the-arsb-gene
#1
Ping Wang, Carol Margolis, Gloria Lin, Elizabeth L Buza, Scott Quick, Karthik Raj, Rachel Han, Urs Giger
Mucopolysaccharidoses are inherited metabolic disorders that result from a deficiency of lysosomal enzymes required for the catabolism of glycosaminoglycans. Lysosomal glycosaminoglycan accumulation results in cell and organ dysfunction. This study characterized the phenotype and genotype of mucopolysaccharidosis VI in a Great Dane puppy with clinical signs of stunted growth, facial dysmorphia, skeletal deformities, corneal opacities, and increased respiratory sounds. Clinical and pathologic evaluations, urine glycosaminoglycan analyses, lysosomal enzyme assays, and ARSB sequencing were performed...
January 1, 2017: Veterinary Pathology
https://www.readbyqxmd.com/read/29153844/treatment-of-brain-disease-in-the-mucopolysaccharidoses
#2
REVIEW
Maurizio Scarpa, Paul J Orchard, Angela Schulz, Patricia I Dickson, Mark E Haskins, Maria L Escolar, Roberto Giugliani
The mucopolysaccharidosis (MPS) disorders are a group of lysosomal storage diseases caused by lysosomal enzyme deficits that lead to glycosaminoglycan accumulation, affecting various tissues throughout the body based on the specific enzyme deficiency. These disorders are characterized by their progressive nature and a variety of somatic manifestations and neurological symptoms. There are established treatments for some MPS disorders, but these mostly alleviate somatic and non-neurological symptoms and do not cure the disease...
October 16, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29152458/lysosomal-storage-diseases
#3
REVIEW
Carlos R Ferreira, William A Gahl
Lysosomes are cytoplasmic organelles that contain a variety of different hydrolases. A genetic deficiency in the enzymatic activity of one of these hydrolases will lead to the accumulation of the material meant for lysosomal degradation. Examples include glycogen in the case of Pompe disease, glycosaminoglycans in the case of the mucopolysaccharidoses, glycoproteins in the cases of the oligosaccharidoses, and sphingolipids in the cases of Niemann-Pick disease types A and B, Gaucher disease, Tay-Sachs disease, Krabbe disease, and metachromatic leukodystrophy...
May 25, 2017: Translational Science of Rare Diseases
https://www.readbyqxmd.com/read/29128371/assessments-of-neurocognitive-and-behavioral-function-in-the-mucopolysaccharidoses
#4
REVIEW
Elsa G Shapiro, Maria L Escolar, Kathleen A Delaney, John J Mitchell
The mucopolysaccharidoses (MPS) are a group of rare, inherited lysosomal storage disorders in which accumulation of glycosaminoglycans (GAGs) leads to progressive tissue and organ dysfunction. In addition to a variety of somatic signs and symptoms, patients with rapidly progressing MPS I (Hurler), II, III, and VII can present with significant neurological manifestations, including impaired cognitive abilities, difficulties in language and speech, behavioral abnormalities, sleep problems, and/or seizures. Neurological symptoms have a substantial impact on the quality of life of MPS patients and their families...
September 15, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29111092/quantitative-neuroimaging-in-mucopolysaccharidoses-clinical-trials
#5
REVIEW
Igor Nestrasil, Leonardo Vedolin
The mucopolysaccharidosis (MPS) disorders are rare lysosomal storage disorders caused by mutations in lysosomal enzymes involved in glycosaminoglycan (GAG) degradation. The resulting intracellular accumulation of GAGs leads to widespread tissue and organ dysfunction. In addition to somatic signs and symptoms, patients with MPS can present with neurological manifestations such as cognitive decline, behavioral problems (e.g. hyperactivity and aggressiveness), sleep disturbances, and/or epilepsy. These are associated with significant abnormalities of the central nervous system (CNS), including white and gray matter lesions, brain atrophy, ventriculomegaly, and spinal cord compression...
September 15, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29102600/relationship-between-occlusal-features-and-enzyme-replacement-therapy-in-patients-with-mucopolysaccharidoses
#6
Dmitry José de Santana Sarmento, Thiara Karine de Araújo, Germana de Queiroz Tavares Borges Mesquita, Denise Nóbrega Diniz, Fátima Roneiva Alves Fonseca, Paula Frassinetti V Medeiros, Maria Teresa Botti Rodrigues Dos Santos, Gustavo Pina Godoy
PURPOSE: The aim of this study was describe the relation between occlusal features and enzyme replacement therapy in patients with mucopolysaccharidoses. MATERIALS AND METHODS: A cross-sectional study was conducted. The sample consisted of 20 patients with mucopolysaccharidoses, 10 of whom were undergoing treatment at a hospital in northeast Brazil. Occlusal features were evaluated by clinical examination and panoramic radiography. A structured questionnaire was administered to evaluate the dental care of each patient...
October 13, 2017: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29074036/developmental-and-behavioral-aspects-of-mucopolysaccharidoses-with-brain-manifestations-neurological-signs-and-symptoms
#7
REVIEW
Elsa G Shapiro, Simon A Jones, Maria L Escolar
The mucopolysaccharidoses (MPS) are a group of rare, inherited lysosomal storage disorders, caused by mutations in lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs). The resulting accumulation of GAGs in the body leads to widespread tissue and organ dysfunction. The spectrum, severity, and progression rate of clinical manifestations varies widely between and within the different MPS types. In addition to somatic signs and symptoms, which vary between the different MPS disorders, patients with MPS I, II, III, and VII present with significant neurological signs and symptoms, including impaired cognitive abilities, difficulties in language and speech, and/or behavioral and sleep problems...
August 26, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29065735/phase-i-and-ii-clinical-trials-for-the-mucopolysaccharidoses
#8
Fabiano Poswar, Guilherme Baldo, Roberto Giugliani
The mucopolysaccharidoses are lysosomal diseases characterized by deficient activity of one of the enzymes that degrades glycosaminoglycans. Treatment options are limited; therefore, new treatments are under investigation. Areas covered: We review the medicinal products for the treatment of mucopolysaccharidoses that are currently being investigated in phase I and phase II clinical trials. Expert opinion: The number of alternatives to treat MPS diseases increased dramatically in an attempt to provide therapy options for orphan MPS diseases and to address the unmet needs of the MPS that already have a treatment available...
October 31, 2017: Expert Opinion on Investigational Drugs
https://www.readbyqxmd.com/read/29054894/mucopolysaccharidosis-type-iva-morquio-a-a-close-differential-diagnosis-of-spondylo-epiphyseal-dysplasia
#9
Sugata Narayan Biswas, Shinjan Patra, Partha Pratim Chakraborty, Himanshu Barman
Patients with mucopolysaccharidoses (MPS) have a plethora of multisystemic manifestations depending on the particular type, and atypical presentations are not uncommon. MPS type IVA (Morquio A syndrome) has predominant musculoskeletal system involvement and corneal clouding with normal intelligence and can be misdiagnosed as primary skeletal disorders in clinical practice. The absence of corneal clouding with normal urinary glycosaminoglycans (GAGs) level in a proportion of patients with MPS IVA makes the correct diagnosis even more challenging for physicians...
October 20, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29046964/differences-in-maxillomandibular-morphology-among-patients-with-mucopolysaccharidoses-i-ii-iii-iv-and-vi-a-retrospective-mri-study
#10
Till Koehne, Anja Köhn, Reinhard E Friedrich, Uwe Kordes, Thorsten Schinke, Nicole Muschol, Bärbel Kahl-Nieke
OBJECTIVE: 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. MATERIALS AND METHODS: One hundred head magnetic resonance images were retrospectively analyzed from 41 MPS and 27 control individuals. The width, height and length of the maxilla and mandible were plotted against age and the means of controls, MPS I, MPS II and MPS III were statistically compared...
October 18, 2017: Clinical Oral Investigations
https://www.readbyqxmd.com/read/29029630/correction-to-correlation-of-csf-flow-using-phase-contrast-mri-with-ventriculomegaly-and-csf-opening-pressure-in-mucopolysaccharidoses
#11
Amauri Dalla Corte, Carolina F M de Souza, Maurício Anés, Fabio K Maeda, Armelle Lokossou, Leonardo M Vedolin, Maria Gabriela Longo, Monica M Ferreira, Solanger G P Perrone, Olivier Balédent, Roberto Giugliani
After publication of the article [1], it has been brought to our attention that the full funding acknowledgement is missing from the original article.
October 13, 2017: Fluids and Barriers of the CNS
https://www.readbyqxmd.com/read/28982054/urinary-metabolic-phenotyping-of-mucopolysaccharidosis-type-i-combining-untargeted-and-targeted-strategies-with-data-modeling
#12
Abdellah Tebani, Isabelle Schmitz-Afonso, Lenaig Abily-Donval, Bénédicte Héron, Monique Piraud, Jérôme Ausseil, Anais Brassier, Pascale De Lonlay, Farid Zerimech, Frédéric M Vaz, Bruno J Gonzalez, Stephane Marret, Carlos Afonso, Soumeya Bekri
BACKGROUND: Application of metabolic phenotyping could expand the pathophysiological knowledge of mucopolysaccharidoses (MPS) and may reveal the comprehensive metabolic impairments in MPS. However, few studies applied this approach to MPS. METHODS: We applied targeted and untargeted metabolic profiling in urine samples obtained from a French cohort comprising 19 MPS I and 15 MPS I treated patients along with 66 controls. For that purpose, we used ultra-high-performance liquid chromatography combined with ion mobility and high-resolution mass spectrometry following a protocol designed for large-scale metabolomics studies regarding robustness and reproducibility...
October 2, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28964643/pathophysiology-evaluation-and-management-of-sleep-disorders-in-the-mucopolysaccharidoses
#13
REVIEW
David M Rapoport, John J Mitchell
The mucopolysaccharidoses (MPS) represent a heterogeneous group of lysosomal storage disorders, each one associated with a deficiency in one of the enzymes involved in glycosaminoglycan degradation. Sleep disorders are a frequent manifestation of all types of MPS. Underlying causes are diverse and comprised of both respiratory and central nervous system (CNS) abnormalities. Sleep disordered breathing such as obstructive sleep apnea and nocturnal hypoventilation can arise in patients with upper airway obstruction and/or with alterations in respiratory mechanics, causing restrictive pulmonary disease...
August 25, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28962937/beta-glucuronidase-activity-in-dried-blood-spots-reduced-technique-with-biochemical-parameters-determined
#14
Jaqueline Cé, Melissa Tôrres Rodrigues, Eduarda Tassoni Käfer, Vitória da Costa Moraes, Janice Carneiro Coelho
INTRODUCTION: Mucopolysaccharidoses (MPS) occur due to deficiency in the activity of enzymes that catalyze the breakdown of glycosaminoglycans. MPS VII is caused by deficiency of the beta-glucuronidase enzyme (GUSB). OBJECTIVES: This study aimed to enhance the technique to measure GUSB activity by reducing the amount of reagents and the size of the DBS, as well as to determine some biochemical parameters of enzyme of healthy individuals. METHODS: The measurement of GUSB in 3 and 1...
September 26, 2017: Clinical Biochemistry
https://www.readbyqxmd.com/read/28944140/mucopolysaccharidosis-type-i-ii-and-vi-and-response-to-enzyme-replacement-therapy-results-from-a-single-center-case-series-study
#15
José Francisco da Silva Franco, Regina El Dib, Arnav Agarwal, Diogo Soares, Noala Vicensoto Moreira Milhan, Lilian Maria José Albano, Chong Ae Kim
Mucopolysaccharidoses (MPS) types I, II and VI are associated with deficiencies in alpha-L-iduronidase, iduronate-2-sulfatase and N-acetylgalactosamine-4-sulfatase, respectively, and generally involve progressive and multi-systemic clinical manifestations. Enzyme replacement therapy (ERT) appears to be reasonably well tolerated. The aim of this study was to examine clinical and diagnostic findings of a series of pediatric and adult MPS patients, and assess the safety and efficacy of ERT in children and adults with MPS type I, II and VI...
August 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28934395/abnormal-polyamine-metabolism-is-unique-to-the-neuropathic-forms-of-mps-potential-for-biomarker-development-and-insight-into-pathogenesis
#16
Christian Hinderer, Nathan Katz, Jean-Pierre Louboutin, Peter Bell, Jakub Tolar, Paul J Orchard, Troy C Lund, Mohamad Nayal, Liwei Weng, Clementina Mesaros, Carolina F M de Souza, Amauri Dalla Corte, Roberto Giugliani, James M Wilson
The mucopolysaccharidoses (MPS) are rare genetic disorders marked by severe somatic and neurological symptoms. Development of treatments for the neurological manifestations of MPS has been hindered by the lack of objective measures of central nervous system disease burden. Identification of biomarkers for central nervous system disease in MPS patients would facilitate the evaluation of new agents in clinical trials. High throughput metabolite screening of cerebrospinal fluid (CSF) samples from a canine model of MPS I revealed a marked elevation of the polyamine, spermine, in affected animals, and gene therapy studies demonstrated that reduction of CSF spermine reflects correction of brain lesions in these animals...
October 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28921412/how-close-are-we-to-therapies-for-sanfilippo-disease
#17
REVIEW
Lidia Gaffke, Karolina Pierzynowska, Ewa Piotrowska, Grzegorz Węgrzyn
Sanfilippo disease is one of mucopolysaccharidoses (MPS), a group of lysosomal storage diseases characterized by accumulation of partially degraded glycosaminoglycans (GAGs). It is classified as MPS type III, though it is caused by four different genetic defects, determining subtypes A, B, C and D. In each subtype of MPS III, the primary storage GAG is heparan sulfate (HS), but mutations leading to A, B, C, and D subtypes are located in genes coding for heparan N-sulfatase (the SGSH gene), α-N-acetylglucosaminidase (the NAGLU gene), acetyl-CoA:α-glucosaminide acetyltransferase (the HGSNAT gene), and N-acetylglucosamine-6-sulfatase (the GNS gene), respectively...
September 18, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28918752/correlation-of-csf-flow-using-phase-contrast-mri-with-ventriculomegaly-and-csf-opening-pressure-in-mucopolysaccharidoses
#18
Amauri Dalla Corte, Carolina F M de Souza, Maurício Anés, Fabio K Maeda, Armelle Lokossou, Leonardo M Vedolin, Maria Gabriela Longo, Monica M Ferreira, Solanger G P Perrone, Olivier Balédent, Roberto Giugliani
BACKGROUND: Very little is known about the incidence and prevalence of hydrocephalus in patients with mucopolysaccharidoses (MPS). The biggest challenge is to distinguish communicating hydrocephalus from ventricular dilatation secondary to brain atrophy, because both conditions share common clinical and neuroradiological features. The main purpose of this study is to assess the relationship between ventriculomegaly, brain and cerebrospinal fluid (CSF) volumes, aqueductal and cervical CSF flows, and CSF opening pressure in MPS patients, and to provide potential biomarkers for abnormal CSF circulation...
September 18, 2017: Fluids and Barriers of the CNS
https://www.readbyqxmd.com/read/28904635/does-orthopaedic-surgery-improve-quality-of-life-and-function-in-patients-with-mucopolysaccharidoses
#19
N Williams, D Challoumas, D M Eastwood
PURPOSE: Mucopolysaccharidoses (MPS) are a group of rare lysosomal storage disorders associated with involvement of multiple organs along with a generalised skeletal dysplasia. Both haematopoetic stem cell transplant and enzyme replacement therapy have improved the outlook for patients while surgery remains high-risk and there is little information on clinical or functional outcome to justify many of the surgical procedures performed. This paper aims to summarise the orthopaedic surgical procedures in MPS patients for which quality of life (QoL) and functional data are available and to describe additional QoL and functional measurement tools of relevance to the assessment of orthopaedic outcomes in MPS...
August 1, 2017: Journal of Children's Orthopaedics
https://www.readbyqxmd.com/read/28895939/sleep-disorders-in-childhood-neurogenetic-disorders
#20
REVIEW
Laura Beth Mann Dosier, Bradley V Vaughn, Zheng Fan
enetic advances in the past three decades have transformed our understanding and treatment of many human diseases including neurogenetic disorders. Most neurogenetic disorders can be classified as "rare disease," but collectively neurogenetic disorders are not rare and are commonly encountered in general pediatric practice. The authors decided to select eight relatively well-known neurogenetic disorders including Down syndrome, Angelman syndrome, Prader-Willi syndrome, Smith-Magenis syndrome, congenital central hypoventilation syndrome, achondroplasia, mucopolysaccharidoses, and Duchenne muscular dystrophy...
September 12, 2017: Children
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