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Hurler syndrome

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https://www.readbyqxmd.com/read/28755358/social-functioning-and-behaviour-in-mucopolysaccharidosis-ih-hurlers-syndrome
#1
Annukka Lehtonen, Stewart Rust, Simon Jones, Richard Brown, Dougal Hare
BACKGROUND: Mucopolysaccharidosis type IH (MPS-IH) [Hurlers Syndrome] is a developmental genetic disorder characterised by severe physical symptoms and cognitive decline. This study aimed to investigate the behavioural phenotype of MPS-IH treated by haematopoietic cell transplantation, focusing on social functioning and sleep. Parental stress was also measured. METHODS: Participants were 22 children with MPS-IH (mean age 9 years 1 month), of whom 10 were male (45%)...
July 29, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28670500/peculiar-clinical-presentation-of-coxsackievirus-b4-infection-neonatal-restrictive-cardiomyopathy
#2
Pauline Le Van Quyen, Philippe Desprez, Angelo Livolsi, Véronique Lindner, Samira Fafi-Kremer, Pauline Helms, Maria Cristina Antal
Introduction  Restrictive cardiomyopathy in fetuses and neonates is extremely rare and has a poor outcome. Its etiology in neonates is elusive: metabolic diseases (e.g., Gaucher, Hurler syndrome), neuromuscular disorders (e.g., muscular dystrophies, myofibrillar myopathies), or rare presentation of genetic syndromes (e.g., Coffin-Lowry syndrome) account for a minority of the cases, the majority remaining idiopathic. Case Study  We report the case of a 17-day-old male infant presenting cardiogenic shock following a restrictive dysfunction of the left ventricle...
April 2017: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/28660346/adeno-associated-viral-gene-therapy-for-mucopolysaccharidoses-exhibiting-neurodegeneration
#3
REVIEW
Adeline A Lau, Kim M Hemsley
The mucopolysaccharidoses (MPS) are a subgroup of lysosomal storage disorders that are caused by mutations in the genes involved in glycosaminoglycan breakdown. Multiple organs and tissues are affected, including the central nervous system. At present, hematopoietic stem cell transplantation and enzyme replacement therapies are approved for some of the (non-neurological) MPS. Treatments that effectively ameliorate the neurological aspects of the disease are being assessed in clinical trials. This review will focus on the recent outcomes and planned viral vector-mediated gene therapy clinical trials, and the pre-clinical data that supported these studies, for MPS-I (Hurler/Scheie syndrome), MPS-II (Hunter syndrome), and MPS-IIIA and -IIIB (Sanfilippo syndrome)...
June 29, 2017: Journal of Molecular Medicine: Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte"
https://www.readbyqxmd.com/read/28607814/chiari-i-malformation-and-syringomyelia-in-mucopolysaccharidosis-type-i-hurler-syndrome-treated-with-posterior-fossa-decompression-case-report-and-review-of-the-literature
#4
Vyacheslav Makler, Christina L Goldstein, Daniel Hoernschemeyer, Tomoko Tanaka
BACKGROUND: Hurler Syndrome is the most severe phenotype of mucopolysaccharidosis type I. With bone marrow transplant and enzyme replacement therapy, the life expectancy of a child with Hurler syndrome has been extended, predisposing them to multiple musculoskeletal issues most commonly involving the spine. CASE DESCRIPTION: This is the case report of a 6-year-old male with Hurler syndrome who was diagnosed with Chiari I malformation and cervicothoracic syringomyelia on a preoperative magnetic resonance imaging (MRI) for his thoracolumbar kyphosis...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28585336/liver-directed-human-amniotic-epithelial-cell-transplantation-improves-systemic-disease-phenotype-in-hurler-syndrome-mouse-model
#5
Natalie S Rodriguez, Lisa Yanuaria, Kevin Murphy R Parducho, Irving M Garcia, Bino A Varghese, Brendan H Grubbs, Toshio Miki
Mucopolysaccharidosis type 1 (MPS1) is an inherited lysosomal storage disorder caused by a deficiency in the glycosaminoglycan (GAG)-degrading enzyme α-l-iduronidase (IDUA). In affected patients, the systemic accumulation of GAGs results in skeletal dysplasia, neurological degeneration, multiple organ dysfunction, and early death. Current therapies, including enzyme replacement and bone marrow transplant, improve life expectancy but the benefits to skeletal and neurological phenotypes are limited. In this study, we tested the therapeutic efficacy of liver-directed transplantation of a placental stem cell, which possesses multilineage differentiation potential, low immunogenicity, and high lysosomal enzyme activity...
June 6, 2017: Stem Cells Translational Medicine
https://www.readbyqxmd.com/read/28479223/the-frequency-of-carpal-tunnel-syndrome-in-hurler-syndrome-after-peritransplant-enzyme-replacement-therapy-a-retrospective-comparison
#6
Mitchell L Wyffels, Paul J Orchard, Ryan M Shanley, Weston P Miller, Ann E Van Heest
PURPOSE: Children with Hurler syndrome (HS) develop carpal tunnel syndrome (CTS) owing to glycosaminoglycan deposition secondary to enzyme deficiency. Advancement in the treatment of the underlying enzyme deficiency now commonly includes peritransplant intravenous enzyme replacement therapy (ERT). The primary objective of this study was to determine if the use of limited ERT in addition to hematopoietic stem cell transplantation (HCT) for the treatment of children with HS reduces the incidence of surgical intervention for CTS compared with a cohort of historical controls treated with HCT alone...
May 4, 2017: Journal of Hand Surgery
https://www.readbyqxmd.com/read/28421916/mucopolysaccharidoses-causing-valvular-heart-disease-report-and-review-of-surgical-management
#7
Carlos O Encarnacion, Dustin Hang, Michael Earing, Michael E Mitchell
Mucopolysaccharidosis type I is a genetic disorder with impaired glycosaminoglycan degradation. Cardiac pathologic involvement in this subset of patients is predominantly valvular heart disease. Valvular heart disease seen in these patients will most likely require surgical intervention in their lifetime. Only a limited amount of reports are dedicated to the cardiac surgical management of mucopolysaccharidoses. We present the case of a 32-year-old female with Hurler-Scheie syndrome who required multiple valve replacements due to progression of valvular dysfunction and decline in the quality of life...
January 1, 2017: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/28292383/mucopolysaccharidoses-clinical-spectrum-and-frequency-of-different-types
#8
Huma Arshad Cheema, Hassan Suleman Malik, Muhammad Almas Hashmi, Zafar Fayyaz, Iqra Mushtaq, Nagina Shahzadi
OBJECTIVE: To determine the relative frequency and clinical features of different varieties of mucopolysaccharidosis. STUDY DESIGN: Descriptive study. PLACE AND DURATION OF STUDY: Department of Pediatric Gastroenterology, Hepatology and Nutrition, The Children's Hospital and The Institute of Child Health, Lahore, from January 2013 to December 2015. METHODOLOGY: All patients who had any feature suggestive of mucopolysaccharidosis were screened with detailed history, clinical examination and skeletal survey...
February 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28283844/long-term-survival-and-cardiopulmonary-outcome-in-children-with-hurler-syndrome-after-haematopoietic-stem-cell-transplantation
#9
Su Han Lum, Karolina M Stepien, Arunabha Ghosh, Alexander Broomfield, Heather Church, Jean Mercer, Simon Jones, Robert Wynn
Premature death in untreated children with Hurler syndrome (HS) in the first decade of life is largely due to life-threatening cardiopulmonary complications. We examined the long-term survival and cardiopulmonary outcome in 54 children undergoing haematopoietic stem cell transplantation (HSCT) at the Royal Manchester Children's Hospital from 1985 to 2008. The median age at first HSCT was 15.1 months. Eighteen had graft failure and nine died after first HSCT. Of 18 patients with graft failure, 17 underwent second HSCT and the remaining one was lost to follow-up (LOF)...
May 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28218755/changes-in-the-incidence-patterns-and-outcomes-of-graft-failure-following-hematopoietic-stem-cell-transplantation-for-hurler-syndrome
#10
S H Lum, W P Miller, S Jones, K Poulton, W Ogden, H Lee, A Logan, D Bonney, T C Lund, P J Orchard, R F Wynn
Hematopoietic stem cell transplantation (HSCT) is the standard of care in children with Hurler syndrome (HS) as it is the only therapy that can arrest disease progression. We examined the incidence, patterns and outcomes of graft failure in all HS children undergoing first HSCT at the Royal Manchester Children's Hospital or the University of Minnesota Children's Hospital from 1983 to 2016. Implementation of busulfan pharmacokinetic monitoring started in 2004 in both institutions. Two hundred and forty HS children were included in this analysis (historical era (pre-2004), n=131; current era (post 2004), n=109)...
June 2017: Bone Marrow Transplantation
https://www.readbyqxmd.com/read/28193245/early-disease-progression-of-hurler-syndrome
#11
Bridget T Kiely, Jennifer L Kohler, Hannah Y Coletti, Michele D Poe, Maria L Escolar
BACKGROUND: Newborn screening for mucopolysaccharidosis type I (MPS I) shows promise to improve outcomes by facilitating early diagnosis and treatment. However, diagnostic tests for MPS I are of limited value in predicting whether a child will develop severe central nervous system disease associated with Hurler syndrome, or minimal or no central nervous system involvement associated with the attenuated phenotypes (Hurler-Scheie and Scheie syndromes). Given that the optimal treatment differs between Hurler syndrome and the attenuated MPS I phenotypes, the absence of a reliable prognostic biomarker complicates clinical decision making for infants diagnosed through newborn screening...
February 14, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28171706/subregional-brain-distribution-of-simple-and-complex-glycosphingolipids-in-the-mucopolysaccharidosis-type-i-hurler-syndrome-mouse-impact-of-diet
#12
Jennifer T Saville, Hong Ngoc Thai, Rebecca J Lehmann, Ainslie L K Derrick-Roberts, Maria Fuller
Gangliosides are the most complex oligosaccharide-containing glycosphingolipids defined by the presence of sialic acid and although present in all tissues, predominate in the brain. Considering their importance in neural development, it is unsurprising that ganglioside metabolism is altered in neurodegenerative diseases. The severe form of mucopolysaccharidosis type I, Hurler syndrome (HS), is characterised by progressive loss of neuronal function through largely undefined mechanisms. Here, we sought to interrogate brain gangliosides in a murine model of HS and further, assessed whether dietary modulation of lipid metabolism effected correction of the metabolic abnormalities...
April 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28125077/cognitive-outcomes-and-age-of-detection-of-severe-mucopolysaccharidosis-type-1
#13
Scott D Grosse, Wendy K K Lam, Lisa D Wiggins, Alex R Kemper
The US Secretary of Health and Human Services recommended in February 2016 that mucopolysaccharidosis type 1 (MPS I) be added to the recommended uniform screening panel for state newborn screening programs. One of the key factors in this decision was the evidence suggesting that earlier treatment with hematopoietic cell transplantation (HCT) for the most severe form, Hurler syndrome (MPS IH), would lead to improved cognitive outcomes. Consistent evidence from peer-reviewed studies suggests that transplantation in the first year of life is associated with improved developmental quotient or intelligence quotient and continued cognitive growth, with earlier age of treatment associated with improved outcomes...
January 26, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28119821/immune-tolerance-induction-for-laronidase-treatment-in-mucopolysaccharidosis-i
#14
Roberto Giugliani, Taiane Alves Vieira, Clarissa Gutierrez Carvalho, Maria-Veronica Muñoz-Rojas, Alla N Semyachkina, Victoria Y Voinova, Susan Richards, Gerald F Cox, Yong Xue
Enzyme replacement therapy (ERT) can produce anti-drug antibody (ADA) responses that reduce efficacy or lead to hypersensitivity reactions. Six patients with severe mucopolysaccharidosis type I (MPS I/Hurler syndrome) who did not receive hematopoietic stem cell transplantation underwent an immunosuppression regimen prior to initiating ERT with laronidase. The primary endpoint for immune tolerance induction was the number of patients with an ADA titer ≤ 3200 after 24 weeks of laronidase at the labeled dose...
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28054207/mortality-after-hematopoietic-stem-cell-transplantation-for-severe-mucopolysaccharidosis-type-i-the-30-year-university-of-minnesota-experience
#15
Nathan J Rodgers, Alexander M Kaizer, Weston P Miller, Kyle D Rudser, Paul J Orchard, Elizabeth A Braunlin
BACKGROUND AND AIM: Mucopolysaccharidosis IH (MPS IH, Hurler syndrome) naturally leads to death within the first decade of life, primarily from cardiac and pulmonary causes. To determine how hematopoietic stem cell transplantation (HSCT) has altered mortality, we analyzed our institution's 30-year experience of patients with MPS IH undergoing HSCT. METHODS: Using chart review and the National Death Index, we determined survival status of 134 patients (males = 69) with MPS IH transplanted between 9/16/1983 and 7/25/2013 on 12/31/2013...
March 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28031499/mid-term-outcome-of-total-hip-arthroplasty-using-a-short-stem
#16
Rajesh Malhotra, Vijay Kumar
PURPOSE: To review the outcome of total hip arthroplasty (THA) using a short femoral stem in 33 hips. METHODS: Records of 33 hips in 20 men and 10 women aged 25 to 40 (mean, 30) years who underwent cementless THA using a short femoral stem by a single senior surgeon were reviewed. The diagnosis included avascular necrosis (n=9), ankylosing spondylitis (n=12), rheumatoid arthritis (n=7), posttraumatic arthritis (n=4), and Hurler syndrome (n=1). Clinical outcome was assessed using the Harris Hip Score...
December 2016: Journal of Orthopaedic Surgery
https://www.readbyqxmd.com/read/27991992/neurological-outcomes-after-hematopoietic-stem-cell-transplantation-for-cerebral-x-linked-adrenoleukodystrophy-late-onset-metachromatic-leukodystrophy-and-hurler-syndrome
#17
Jonas Alex Morales Saute, Carolina Fischinger Moura de Souza, Fabiano de Oliveira Poswar, Karina Carvalho Donis, Lillian Gonçalves Campos, Adriana Vanessa Santini Deyl, Maira Graeff Burin, Carmen Regla Vargas, Ursula da Silveira Matte, Roberto Giugliani, Maria Luiza Saraiva-Pereira, Leonardo Modesti Vedolin, Lauro José Gregianin, Laura Bannach Jardim
Objective: To describe survival and neurological outcomes after HSCT for these disorders. Methods: Seven CALD, 2 MLD and 2 MPS-IH patients underwent HSCT between 2007 and 2014. Neurological examinations, magnetic resonance imaging, molecular and biochemical studies were obtained at baseline and repeated when appropriated. Results: Favorable outcomes were obtained with 4/5 related and 3/6 unrelated donors. Two patients died from procedure-related complications...
December 2016: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/27989932/allele-level-hla-matching-impacts-key-outcomes-following-umbilical-cord-blood-transplantation-for-inherited-metabolic-disorders
#18
Kanwaldeep K Mallhi, Angela R Smith, Todd E DeFor, Troy C Lund, Paul J Orchard, Weston P Miller
Allogeneic hematopoietic stem cell transplantation has demonstrated efficacy for numerous inherited metabolic disorders (IMDs). Umbilical cord blood transplant (UCBT) is increasingly used as a graft source in IMDs, but little is known of the impact of cord blood unit (CBU)/recipient HLA allelic disparity on key outcomes following UCBT for IMD. We reviewed outcomes of 106 consecutive first, single UCBTs for IMD at the University of Minnesota with regard to CBU/recipient HLA allelic matching (HLA-A, -B, -C, and -DRB1)...
January 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/27928775/lysosomal-storage-disorders-in-nonimmune-hydrops-fetalis-nihf-an-indian-experience
#19
Jayesh Sheth, Mehul Mistri, Krati Shah, Mayank Chaudhary, Koumudi Godbole, Frenny Sheth
Lysosomal storage disorders (LSD) are rare inherited neurovisceral inborn errors of metabolism which may present as nonimmune hydrops fetalis (NIHF) during pregnancy. Although causes of NIHF are highly diverse, LSDs are one of the underlying causes of NIHF. The aim of this study was to elucidate most frequent causes of LSDs presenting as NIHF in Indian population. Several fetal tissues were investigated for enzymatic diagnosis of LSDs using modified fluorometric assays in the current prospective study carried out at our national tertiary center from 2006 through 2016...
December 8, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27911282/role-of-rehabilitation-in-hurler-s-syndrome
#20
Sudhir Ramkishore Mishra, Mona Shastri, Jaishree Ramesh
Hurler syndrome is an inherited autosomal recessive disorder of lysosomal accumulation of un-degraded glucosaminoglycan secondary to deficiency of a-L-Iduronidase enzyme. It is most severe form of Mucopolysaccharidosis with incidence of 1:100 000. It has multisystemic involvement leading to multiple deformity, disability and death within 10th years of life. A 2 year old boy presented with umbilical hernia, gross developmental delay and a progressive spinal deformity. On detailed clinical, radiological and laboratory investigation he was diagnosed as Hurler's syndrome...
2017: Journal of Back and Musculoskeletal Rehabilitation
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