• Sly syndrome, also called mucopolysaccharidosis type VII (MPS VII), is a very rare lysosomal storage disease that has an autosomal-recessive inheritance pattern. (medscape.com)
  • The mucopolysaccharidoses (MPSs) are a group of inherited lysosomal storage disorders that are caused by a deficiency of specific lysosomal enzymes required for the degradation of glycosaminoglycans (GAGs), also known as mucopolysaccharides. (medscape.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)
  • Lysosomal disorders like mucopolysaccharidosis are triggered when a particular enzyme exists in too small amount or it is missing altogether. (mpstarsasag.hu)
  • Therefore, we have to deal with all these diseases in one association, and with some even more rare diseases, which appear in low number in Europe called: lysosomal metabolic disease (Mucolipidosis, Mannosidosis, Fucosidosis etc. (mpstarsasag.hu)
  • Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is an X-linked recessive lysosomal storage disorder resulting from deficient activity of iduronate 2-sulfatase (IDS) and the progressive lysosomal accumulation of sulfated glycosaminoglycans (GAGs). (biomedcentral.com)
  • Mucolipidosis type IV ( ML IV ), like other types of mucolipidosis is an inherited neurodegenerative lysosomal storage disorder. (chemeurope.com)
  • [ 5 ] In 1965, McKusick et al classified Hurler and Hunter syndromes, as well as Morquio syndrome, as hereditary acid mucopolysaccharidoses (MPS I to MPS V). MPS V was referred to as Scheie Syndrome. (medscape.com)
  • Child with Hurler syndrome (mucopolysaccharidosis type IH). (medscape.com)
  • 1] It first was described in 1967 by Leroy and DeMars when they reported a patient with clinical and radiographic features similar to those of Hurler syndrome (mucopolysaccharidoses 1H [MPS 1H]) but with an earlier onset of symptoms and no evidence of mucopolysacchariduria. (medscape.com)
  • Spranger and Wiedermann subsequently classified this disease as mucolipidosis type II (ML II) because it had clinical characteristics that included mucopolysaccharidoses and sphingolipidoses. (medscape.com)
  • Morquio syndrome (mucopolysaccharidosis type IV) is a member of a group of inherited metabolic disorders collectively termed mucopolysaccharidoses (MPSs). (medscape.com)
  • Patients with Morquio syndrome (mucopolysaccharidosis type IV) can usually be clinically distinguished from patients with other MPSs because they do not have coarse facial features or mental retardation and they have additional skeletal manifestations derived from a unique spondyloepiphyseal dysplasia and ligamentous laxity. (medscape.com)
  • Compared with other patients who have MPS, those with Morquio syndrome (mucopolysaccharidosis type IV) tend to have greater spine involvement with scoliosis, kyphosis, and severe gibbus, as well as platyspondyly, rib flaring, pectus carinatum, and ligamentous laxity. (medscape.com)
  • Odontoid hypoplasia is the most critical skeletal feature to recognize in any patient with Morquio syndrome (mucopolysaccharidosis type IV). (medscape.com)
  • The mucopolysaccharidoses (MPS) are a family of disorders that are caused by inherited defects in the catabolism of sulfated components of connective tissue known as glycosaminoglycans (GAGs). (mhmedical.com)
  • Dr. Ellinwood has over two decades of research experience with the mucopolysaccharidosis and mucolipidosis disorders. (projectalive.org)
  • GNPTAB-related disorders comprise the phenotypes mucolipidosis II (ML II) and mucolipidosis IIIa/ß (ML IIIa/ß), and phenotypes intermediate between ML II and ML IIIa/ß. (nih.gov)
  • Sly syndrome is a rare form of mucopolysaccharidosis with an estimated worldwide frequency of 1 per 250,000 births. (medscape.com)
  • Identification and Functional Characterization of IDS Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II). (cdc.gov)
  • Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study. (cdc.gov)
  • Variability in the ocular phenotype in mucopolysaccharidosis. (cdc.gov)
  • Thus far, a $50,000 single year grant has been awarded for a project titled "Investigating the Transition from Pediatric to Adult Care in Patients with Mucopolysaccharidosis (MPS)," by principal investigator, Nathan Grant. (projectalive.org)
  • Thirty-eight patients, 17 with adrenomyeloneuropathy, 3 with mucopolysaccharidosis I, 3 with mucopolysaccharidosis IV, 2 with mucopolysaccharidosis VI, 2 with mucolipidosis, and 11 with human T-cell lymphotropic virus type-1 (HTLV-1)-associated myelopathy participated in the study. (scielo.org)
  • Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21-year period. (cdc.gov)
  • Determination of genotypic and clinical characteristics of Colombian patients with mucopolysaccharidosis IVA. (cdc.gov)
  • Mutation Analysis of the IDUA Gene in Iranian Patients with Mucopolysaccharidosis Type 1: Identification of Four Novel Mutations. (cdc.gov)
  • Identification of eleven different mutations including six novel, in the arylsulfatase B gene in Iranian patients with mucopolysaccharidosis type VI. (cdc.gov)
  • Mutation spectrum and pivotal features for differential diagnosis of Mucopolysaccharidosis IVA patients with severe and attenuated phenotype. (cdc.gov)
  • A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis. (cdc.gov)
  • Each year, the National MPS Society awards deserving medical researchers grants to pursue treatments and cures for mucopolysaccharidosis (MPS) diseases and mucolipidosis II and III (ML II / ML III). (lysosomaldiseasenetwork.org)
  • This type of mucolipidosis is caused by mutation of a non-selective cation channel, TRPML1 . (chemeurope.com)
  • See the equivalent section in the main mucolipidosis article . (chemeurope.com)
  • Dierks T, Schlotawa L, Frese MA, Radhakrishnan K, von Figura K, Schmidt B. Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins. (medscape.com)
  • Objective Early diagnosis and treatment initiation are important factors for successful treatment of mucopolysaccharidosis type I (MPS I). The purpose of this observational study was to assess whether age at diagnosis and time to first treatment for individuals with MPS I have improved over the last 15 years. (bmj.com)
  • Twenty-one patients with the diagnosis of mucopolysaccharidosis or mucolipidosis and a history of respiratory complaints or thorough respiratory evaluation were studied retrospectively. (omeka.net)
  • Mutation spectrum and pivotal features for differential diagnosis of Mucopolysaccharidosis IVA patients with severe and attenuated phenotype. (cdc.gov)
  • Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study. (cdc.gov)
  • Diagnosis of mucopolysaccharidoses is suggested by history, physical examination, bone abnormalities (eg, dysostosis multiplex) found during skeletal survey, and elevated total and fractionated urinary glycosaminoglycans. (msdmanuals.com)
  • All lipid storage disorders are inherited in an autosomal-recessive fashion, except for Fabry disease and mucopolysaccharidosis type II (Hunter disease), which are X-linked. (medscape.com)
  • It is important to note that there are several other conditions which can present with congenital corneal opacity, and these must be considered on the list of differentials (i.e. congenital glaucoma , corneal dystrophies , corneal ulcers, sclerocornea, and metabolic disorders such as mucopolysaccharidoses/mucolipidoses and limbal dermoid). (gene.vision)
  • Although traditionally believed to be benign in nature, they have now been shown to co-exist with inborn errors of metabolism, most commonly GM1 gangliosidosis and mucopolysaccharidosis type I (Hurler's disease), followed by mucopolysaccharidosis type II (Hunter's syndrome), mucolipidosis, Niemann-Pick disease and mannosidosis. (wjgnet.com)
  • Thus the brain, which is rich in gangliosides, is particularly affected by gangliosidoses, whereas mucopolysaccharidoses affect many tissues because mucopolysaccharides are present throughout the body. (msdmanuals.com)
  • Although each mucopolysaccharidosis (MPS) differs clinically, most individuals experience a period of normal development followed by a decline in physical and/or mental function. (nih.gov)
  • Mucolipidosis III gamma (ML IIIγ) is a slowly progressive inborn error of metabolism mainly affecting skeletal, joint, and connective tissues. (nih.gov)
  • Spranger JW, Wiedemann HR. The genetic mucolipidoses. (medscape.com)
  • Mucolipidoses (ML) are a group of genetic, metabolic diseases which lead to the accumulation of abnormal amounts of lipids (fatty substances) and carbohydrates in cells. (chetindia.org)
  • en 8 EN ONIN Besides the specific research projects to be funded under the Center grant, we work in an extensive context of genetic and related research -- and indispensable aspect of our own environment, and a set of activities to which the Center organiza- tion may also bring a new focus for developments that should advance both basic scientific knowledge and its application to human problems. (nih.gov)
  • Mucopolysaccharidoses are a group of inherited metabolic diseases caused by the absence or malfunctioning of certain enzymes the body needs to break down molecules called glycosaminoglycans. (nih.gov)
  • [ 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)
  • Mucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein(GNPTAB). (medscape.com)
  • Mutation Analysis of the IDUA Gene in Iranian Patients with Mucopolysaccharidosis Type 1: Identification of Four Novel Mutations. (cdc.gov)
  • Identification of eleven different mutations including six novel, in the arylsulfatase B gene in Iranian patients with mucopolysaccharidosis type VI. (cdc.gov)
  • Identification and Functional Characterization of IDS Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II). (cdc.gov)
  • People with a mucopolysaccharidosis disorder either do not produce enough of one of the 11 enzymes required to break down these sugar chains into proteins and simpler molecules or they produce enzymes that do not work properly. (nih.gov)
  • Formal diagnostic criteria for mucolipidosis III gamma have not been established. (nih.gov)
  • Hydrocephalus, an excessive accumulation of cerebrospinal fluid in the brain that can cause increased pressure inside the head, is common in some of the mucopolysaccharidoses. (nih.gov)
  • Mucopolysaccharidosis with excessive CHONDROITIN SULFATE B in urine, characterized by dwarfism and deafness. (curehunter.com)
  • Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II. (medscape.com)
  • Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potential use in the diagnostic flowchart. (cdc.gov)
  • Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. (nih.gov)
  • Dried blood spots allow trageted screening to diagnose mucopolysaccharidosis and mucolipidosis. (medscape.com)
  • BioMarin) for routine use within the NHS for the treatment of mucopolysaccharidosis type 4A (MPS 4A), also known as Morquio A syndrome in individuals of all ages. (medscape.com)
  • Children with a mucopolysaccharidosis or mucolipidosis suffer progressive disability of the hands, particularly in relation to dysfunction of the median nerve. (omeka.net)