Maroteaux-Lamy syndrome
... , or Mucopolysaccharidosis Type VI (MPS-VI), is an inherited disease caused by a deficiency in the ... "Mucopolysaccharidosis type VI". MedlinePlus. Retrieved 25 February 2023. "Mucopolysaccharidoses Fact Sheet". National Institute ... ISBN 978-1-4160-2999-1. "Mucopolysaccharidosis type VI". United States National Library of Medicine. 11 June 2019. Retrieved 17 ... Valayannopoulos, Vassili; Nicely, Helen; Harmatz, Paul; Turbeville, Sean (12 Apr 2010). "Mucopolysaccharidosis VI". Orphanet ...
Arylsulfatase B
Galsulfase is used to treat adults and children who have mucopolysaccharidosis VI (MPS VI or Maroteaux-Lamy syndrome). This ... is indicated for long-term enzyme-replacement therapy in people with a confirmed diagnosis of mucopolysaccharidosis VI (MPS VI ... which in turn can lead to mucopolysaccharidosis VI. Used as a pharmaceutical drug, the enzyme is known under the International ... is an enzyme associated with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). Arylsulfatase B is among a group of ...
Hyaluronidase deficiency
"Mucopolysaccharidosis". "MUCOPOLYSACCHARIDOSIS, TYPE IX;MPS9". Clinical and Biochemical Manifestations of Hyaluronidase ...
Corneal opacity
Mucopolysaccharidoses: The mucopolysaccharidoses are a group of inherited metabolic diseases caused by the absence or ... III and VI". Experimental Eye Research. 68 (5): 523-30. doi:10.1006/exer.1998.0622. PMID 10328965.{{cite journal}}: CS1 maint: ... "Mucopolysaccharidoses Fact Sheet". Radhika Tandon; M Vanathi; Noopur Gupta; Rashmi Singh. "Corneal transplantation in the ... J Alroy , M Haskins, D E Birk (2001). "Altered Corneal Stromal Matrix Organization Is Associated With Mucopolysaccharidosis I, ...
Galactosamine-6 sulfatase
1995). "Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients". Hum. Mol. Genet. 4 ... mucopolysaccharidosis type IVA)". Fukuda S, Tomatsu S, Masue M, et al. (1992). "Mucopolysaccharidosis type IVA. N- ... 1994). "Mucopolysaccharidosis IV A: molecular cloning of the human N-acetylgalactosamine-6-sulfatase gene (GALNS) and analysis ... 1995). "Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate ...
Hurler syndrome
All members of the mucopolysaccharidosis family are also lysosomal storage diseases. Mucopolysaccharidosis type I (MPS I) is ... Hunter syndrome (MPS II) Sanfilippo syndrome (MPS III) Morquio syndrome (MPS IV) Maroteaux-Lamy syndrome (MPS VI) James WD, ... "Mucopolysaccharidosis type I". Genetics Home Reference. Retrieved 10 May 2018. Peters C, Shapiro EG, Anderson J, Henslee-Downey ... Combined, all of the mucopolysaccharidoses have a frequency of approximately one in every 25,000 births in the United States. A ...
Mucopolysaccharidosis
Children with MPS VI, Maroteaux-Lamy syndrome, usually have normal intellectual development but share many of the physical ... while approximately 1 in 500,000 newborns will experience attenuated mucopolysaccharidosis type I. Most mucopolysaccharidoses ... Individuals with mucopolysaccharidosis either do not produce enough of one of the eleven enzymes required to break down these ... The mucopolysaccharidoses are part of the lysosomal storage disease family, a group of more than 40 genetic disorders that ...
List of skin conditions
... mucopolysaccharidosis type VI) Medication-induced hyperlipoproteinemia Metastatic calcinosis cutis Milia-like calcinosis ... mucopolysaccharidosis type I) Hurler-Scheie syndrome (mucopolysaccharidosis type I H-S) Hyaluronidase deficiency ( ... mucopolysaccharidosis type IX) Iatrogenic calcinosis cutis Idiopathic scrotal calcinosis (idiopathic calcified nodules of the ... mucopolysaccharidosis type I S) Secondary cutaneous amyloidosis Secondary systemic amyloidosis Sialidosis Sly syndrome ( ...
Macrocephaly
MPS-II Mucopolysaccharidosis, MPS-III-D Muenke syndrome Multiple acyl-CoA dehydrogenase deficiency Multiple congenital ... Megalocornea-intellectual disability syndrome MGAT2-congenital disorder of glycosylation MOMO syndrome Mucopolysaccharidosis ...
Coarse facial features
... mild form Mucopolysaccharidosis type 2 Hunter syndrome- severe form Mucopolysaccharidosis type 3 Mucopolysaccharidosis type 6 ... Mucopolysaccharidosis type 7 Sly syndrome Mucopolysaccharidosis type I Hurler syndrome Mucopolysaccharidosis type I Hurler/ ... Scheie syndrome Mucopolysaccharidosis type I Scheie syndrome Multiple endocrine abnormalities - adenylyl cyclase dysfunction ... Morquio syndrome Morquio syndrome type A Morquio syndrome type B MPS 3 C MPS 3 D Mucolipidosis III Mucopolysaccharidosis type 2 ...
Emil Kakkis
MPS VI Phase 3 Study Group: Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, ... During his tenure at BioMarin, Kakkis guided the development and approval of two more treatments for rare disorders, MPS VI and ... in patients with mucopolysaccharidosis I. Molecular Genetics and Metabolism, 96(1); 13-19, 2009. Clarke, L.A., Wraith, J.E., ... for the rare disorder Mucopolysaccharidosis (MPS I). The struggle to get the therapy translated from a successful canine model ...
BioMarin Pharmaceutical
... also called mucopolysaccharidosis type VI) Iduronidase (branded as Aldurazyme), a recombinant protein therapeutic for ... BioMarin has six products on the market, each of which is an orphan drug. Tetrahydrobiopterin (branded as Kuvan) (sapropterin ... BioMarin was the first company to provide therapeutics for mucopolysaccharidosis type I (MPS I), by manufacturing laronidase ( ... mucopolysaccharidosis I Amifampridine (branded as Firdapse), a small molecule drug for Lambert-Eaton myasthenic syndrome (as of ...
Mucopolysaccharidosis type I
... is a spectrum of diseases in the mucopolysaccharidosis family. It results in the buildup of ... "Mucopolysaccharidoses Fact Sheet". National Institute of Neurological Disorders and Stroke. 15 Nov 2017. Retrieved 11 May 2018 ... "Mucopolysaccharidosis type I". Genetics Home Reference. Retrieved 10 May 2018. (Articles with short description, Short ... Banikazemi, Maryam (12 Oct 2014). "Hurler syndrome, Hurler-Scheie Syndrome, and Scheie Syndrome (Mucopolysaccharidosis Type I ...
Osteochondrodysplasia
"Mucopolysaccharidoses". NORD (National Organization for Rare Disorders). Retrieved 2022-11-18. "Mucopolysaccharidoses". NORD ( ... Mucopolysaccharidosis can cause a wide spectrum of clinical and radiologic manifestations ranging from mild skeletal and ... Examples of the use of enzyme replacement therapy are mucopolysaccharidoses and Gaucher disease. Results have shown effectivity ... "Mucopolysaccharidoses - Children's Health Issues". Merck Manuals Consumer Version. Retrieved 2022-11-18. "Cleidocranial ...
NAGLU
Defects in this gene are the cause of mucopolysaccharidosis type IIIB (MPS-IIIB), also known as Sanfilippo syndrome B. This ... Yogalingam G, Hopwood JJ (October 2001). "Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical ... mucopolysaccharidosis III B)". Human Molecular Genetics. 5 (6): 771-7. doi:10.1093/hmg/5.6.771. PMID 8776591. Clark AG, ... 110 (5): 842-6. doi:10.1093/oxfordjournals.jbchem.a123668. PMID 1783617. Vance JM, Pericak-Vance MA, Elston RC, Conneally PM, ...
Iduronidase
Aldurazyme is indicated in the US for people with Hurler and Hurler-Scheie forms of Mucopolysaccharidosis I (MPS I) and for ... "Mucopolysaccharidosis type I". MedlinePlus. NBK1162. "Laronidase". Drug Information Portal. U.S. National Library of Medicine. ... A deficiency in the IDUA protein is associated with mucopolysaccharidoses (MPS). MPS, a type of lysosomal storage disease, is ... "A Study of the Effect of Aldurazyme (Laronidase) Treatment on Lactation in Female Patients With Mucopolysaccharidosis I (MPS I ...
SGSH
Yogalingam G, Hopwood JJ (Oct 2001). "Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and ... or mucopolysaccharidosis III, is a lysosomal storage disease due to impaired degradation of heparan sulfate. MPS III includes 4 ... "Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA ( ... 6 (5): 787-91. doi:10.1093/hmg/6.5.787. PMID 9158154. Weber B, Guo XH, Wraith JE, Cooper A, Kleijer WJ, Bunge S, Hopwood JJ ( ...
Β-Glucuronidase
Wu BM, Sly WS (1994). "Mutational studies in a patient with the hydrops fetalis form of mucopolysaccharidosis type VII". Human ... Bell CE, Sly WS, Brot FE (January 1977). "Human beta-glucuronidase deficiency mucopolysaccharidosis: identification of cross- ... "Murine mucopolysaccharidosis type VII. Characterization of a mouse with beta-glucuronidase deficiency". The Journal of Clinical ... "Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity". American Journal of Human Genetics ...
Flat-chested kitten syndrome
Schultheiss, P. C., Gardner, S. A., Owens, J. M., Wenger, D. A., Thrall, M. A. (2000). Mucopolysaccharidosis VII in a cat. ... Pectus Excavatum in Eight Dogs and Six Cats. Journal of the American Animal Hospital Association 25, 595-605 McAnulty, J. F., ... Those retaining some degree of flatness often grow out of the condition at any point in the ensuing 6 months, and the vast ... though some take as long as 6 months to normalise. In the very small number of kittens reported so far treated with steroids, ...
Maria Luisa Escolar
Holt J, Poe MD, Escolar ML (Aug 2011). "Early clinical markers of central nervous system involvement in mucopolysaccharidosis ... She has contributed to articles on the management of mucopolysaccharidosis type II (Hunter syndrome) and assessment of ... To identify which patients with mucopolysaccharidosis type II (Hunter syndrome) have the severe neurodegenerative form of the ... Holt JB, Poe MD, Escolar ML (May 2011). "Natural progression of neurological disease in mucopolysaccharidosis type II". ...
Type 6
... a form of mucopolysaccharidosis C-C chemokine receptor type 6, a CC chemokine receptor Class 6 (disambiguation) Model 6 ( ... a prototype automobile designed by Ettore Bugatti Mucopolysaccharidosis type 6, ... Type 6 may refer to: Peugeot Type 6, an automobile by the manufacturer Peugeot Japanese Type 6 submarine Spinocerebellar ataxia ... autosomal dominant disorder Bristol Type 6 T.T.A, a British two-seat, twin-engine biplane Type 6 fire engine Bugatti Type 6, ...
Iduronate-2-sulfatase
Flomen RH, Green PM, Bentley DR, Giannelli F, Green EP (Jul 1992). "Detection of point mutations and a gross deletion in six ... Sukegawa K, Tomatsu S, Fukao T, Iwata H, Song XQ, Yamada Y, Fukuda S, Isogai K, Orii T (1995). "Mucopolysaccharidosis type II ( ... Mutations in this X-chromosome gene that result in enzymatic deficiency lead to the sex-linked mucopolysaccharidosis type II, ... GeneReviews/NIH/NCBI/UW entry on Mucopolysaccharidosis Type II Portal: Biology v t e (Articles with short description, Short ...
N-sulfoglucosamine sulfohydrolase
Sanfillipo Syndrome or Mucopolysaccharidosis III, MPS III, is a lysosomal storage disease resulting from a deficiency in one of ... In Mucopolysaccharidosis type IIIA, where there are genetic changes in the SGSH gene, there are initial signs of ... This is the most common form of Mucopolysaccharidosis III with a prevalence of 1 in every 100,000 individuals. Dierks T, Lecca ... Mucopolysaccharidosis type III, sanfilippo syndrome". Pediatrician (St. Petersburg). 12 (4): 69-81. doi:10.17816/ped12469-81. ...
Sanfilippo syndrome
Mucopolysaccharidosis Hurler syndrome (MPS I) Hunter syndrome (MPS II) Morquio syndrome (MPS IV) List of neurological ... Symptoms usually begin to appear between two and six years of age. Affected infants appear normal, although some mild facial ... "Mucopolysaccharidosis type III". Genetics Home Reference. March 2017. Retrieved 22 July 2018. "A Guide to Understanding MPS III ... September 2010). "Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype". Inherit ...
GM1 gangliosidoses
Dysostosis multiplex (as in the mucopolysaccharidoses) 10-80% of peripheral lymphocytes are vacuolated; foamy histiocytes in ... Mucopolysaccharidosis type 4). Onset of late infantile GM1 is typically between ages 1 and 3 years. The juvenile form may be ... Macular cherry-red spots in 50% by 6-10 months; corneal opacities in some Facial dysmorphology: frontal bossing, wide nasal ... by 6 months; initial hypotonia; later spasticity with pyramidal signs; secondary microcephaly develops; decerebrate rigidity by ...
List of MeSH codes (C18)
... mucopolysaccharidosis VI MeSH C18.452.648.202.715.675 - mucopolysaccharidosis VII MeSH C18.452.648.202.720 - multiple ... mucopolysaccharidosis VI MeSH C18.452.648.595.600.675 - mucopolysaccharidosis VII MeSH C18.452.648.595.803 - sphingolipidoses ... mucopolysaccharidosis I MeSH C18.452.648.202.715.645 - mucopolysaccharidosis II MeSH C18.452.648.202.715.650 - ... mucopolysaccharidosis III MeSH C18.452.648.202.715.655 - mucopolysaccharidosis IV MeSH C18.452.648.202.715.670 - ...
List of MeSH codes (C17)
... mucopolysaccharidosis iv MeSH C17.300.550.575.670 - mucopolysaccharidosis vi MeSH C17.300.550.575.675 - mucopolysaccharidosis ... mucopolysaccharidoses MeSH C17.300.550.575.640 - mucopolysaccharidosis i MeSH C17.300.550.575.645 - mucopolysaccharidosis ii ... MeSH C17.300.550.575.650 - mucopolysaccharidosis iii MeSH C17.300.550.575.655 - ...
Elosulfase alfa
... mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study". Journal of Inherited Metabolic Disease. 37 (6): 979 ... doi:10.1007/s10545-014-9715-6. PMC 4206772. PMID 24810369. Hendriksz CJ, Giugliani R, Harmatz P, Mengel E, Guffon N, ... a medication used for the treatment of Morquio syndrome which is caused by a deficiency in the enzyme N-acetylgalactosamine-6- ...
Splenomegaly
Neufeld EF, Muenzer J (1995). "The mucopolysaccharidoses". In Scriver CR, Beaudet AL, Sly WS, Valle D (eds.). The metabolic and ... Jun 1997). "Systemic ehrlichiosis presenting as progressive hepatosplenomegaly". South Med J. 90 (6): 656-60. doi:10.1097/ ...
List of diseases (M)
... type IV-A Morquio syndrome Mucopolysaccharidosis type IV-B Mucopolysaccharidosis type V Mucopolysaccharidosis type VI Maroteaux ... 4 Mucopolysaccharidosis type 3 Mucopolysaccharidosis type 4 Mucopolysaccharidosis type I Hurler syndrome Mucopolysaccharidosis ... severe, intermediate Mucopolysaccharidosis type VII Sly syndrome Mucopolysaccharidosis Mucormycosis Mucosulfatidosis Muenke ... mild form Mucopolysaccharidosis type II Hunter syndrome- severe form Mucopolysaccharidosis ...