DiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and ProcessesInformation Science
IduronidaseMucopolysaccharidosis IDeaminationGlycosaminoglycansDisaccharidesGenetic TherapyMolecular Sequence Data
MutationsEncodesCaused by a deficiencyAlpha-L iduronidase enzyAccumulationIduronidaseLysosomal enzymesHSCTDermatan sulfateHeparanImmunosorbent assayDeficiency of an enzymeHurlerGlycosaminoglycanMucopolysaccharidosesSpecific enzyme deficiencyMucopolysaccharidosisReplacement therapyPancreaticMutationLysosomesGlb1ActivityClinicalTherapyDifferTissuesDiseaseLiverDiagnosisMoleculesDoseProductionResponsiblePresent
Mutations7
  • IDUA mutations result in the MPS 1 phenotype, which is inherited in an autosomal recessive fashion. (wikipedia.org)
  • Mutations in the IDUA gene cause MPS I. The IDUA gene provides instructions for producing an enzyme that is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). (medlineplus.gov)
  • Mutations in the IDUA gene reduce or completely eliminate the function of the IDUA enzyme. (medlineplus.gov)
  • MPS I is an autosomal recessive condition caused by inactivating mutations in the IDUA gene. (medicalhomeportal.org)
  • Genetic testing: Genetic testing can identify mutations in the IDUA gene, which can confirm a diagnosis of Hurler syndrome. (ineedmedic.com)
  • A new mutation has been reported, making a total of 15 different mutations that can cause premature stop codons in the alpha-L-iduronidase gene (IDUA), and the biochemistry of these mutations has been investigated. (medscape.com)
  • Molecular genetic testing for mutations in IDUA , the gene that encodes α-L-iduronidase, can be used for confirmatory diagnostic testing. (medicalhomeportal.org)
Encodes4
  • This gene encodes the enzyme α-L-iduronidase. (medicalhomeportal.org)
  • Hurler syndrome is caused by mutation in the gene ( IDUA ) that encodes alpha-L-iduronidase on chromosome 4. (medscape.com)
  • RGX-111 is an investigational one-time gene therapy designed to deliver the gene that encodes the IDUA enzyme using the AAV9 vector. (onempsvoice.com)
  • Lysosomal disturbance caused by glycosaminoglycans accumulation triggers secondary effects among which gangliosides GM2, GM3 and GD3 storage on central nervous system (CNS), involved on neurodegenerative process observed in MPS I. Recent studies have showed the expression of genes responsible for gangliosides metabolism are found to be significantly reduced on MPS I mice cerebellum and hippocampus, especially Neu1 gene which encodes neuraminidase 1 enzyme. (fapesp.br)
Caused by a deficiency4
  • Hunter syndrome is caused by a deficiency of an enzyme called iduronate-2-sulfatase (IDUA). (newsnowworld.com)
  • Mucopolysaccharidosis type I (MPS I) is a rare, inherited lysosomal storage disorder caused by a deficiency of the lysosomal enzyme, alpha-L-iduronidase. (medscape.com)
  • Hurler syndrome is a rare genetic disorder that is caused by a deficiency in the enzyme alpha-L-iduronidase. (ineedmedic.com)
  • Lysosomal storage disorders are caused by a deficiency or absence of required enzymes. (conduent.com)
Alpha-L iduronidase enzy5
  • Hurler syndrome is caused by a mutation in the IDUA gene, which provides instructions for making the alpha-L-iduronidase enzyme. (ineedmedic.com)
  • Blood tests: Blood tests can measure the activity of the alpha-L-iduronidase enzyme, which is typically low in people with Hurler syndrome. (ineedmedic.com)
  • Enzyme replacement therapy: Enzyme replacement therapy involves infusing a synthetic form of the alpha-L-iduronidase enzyme into the bloodstream. (ineedmedic.com)
  • Stem cell transplantation: Stem cell transplantation involves transplanting healthy bone marrow cells (which produce the alpha-L-iduronidase enzyme) into the body to replace the cells that are affected by the disorder. (ineedmedic.com)
  • Mucopolysaccharidosis Type 1 (MPSI) is a lysosomal storage disease caused by deficient activity of the alpha-L-iduronidase enzyme, which is used to break down dermatan and heparan sulfates. (wisdompanel.com)
Accumulation8
  • The lack of IDUA enzyme activity leads to the accumulation of GAGs within cells, specifically inside the lysosomes . (medlineplus.gov)
  • Deficiency of this enzyme causes an accumulation of dermatan sulfate and heparan sulfate, which are known as glycosaminoglycans (GAGs). (medicalhomeportal.org)
  • This mutation causes a deficiency in the enzyme, which results in the accumulation of complex sugars called glycosaminoglycans (GAGs) in various tissues throughout the body. (ineedmedic.com)
  • This can help improve the production of the enzyme and reduce the accumulation of GAGs in the body. (ineedmedic.com)
  • In children with Hurler syndrome, the loss of IDUA activity leads to the accumulation of glycosaminoglycan (GAG) in peripheral organs and the central nervous system, and this is only partly corrected by allogeneic transplantation. (institut-servier.com)
  • The enzyme deficiencies lead to the accumulation of mucopolysaccharides in the lysosomes of the cells in the connective tissue and to an increase in their excretion in the urine. (medscape.com)
  • 16q24.3 (Morquio syndrome): The deficiency of enzymes in Morquio syndrome type A or type B leads to the accumulation of keratan sulfate and chondroitin-6-sulfate in the connective tissue, the skeletal system, and the teeth. (medscape.com)
  • Deficiency of this enzyme results in the accumulation of complex sugars known as glycosaminoglycans (GAGs). (medicalhomeportal.org)
Iduronidase9
  • Iduronidase (EC 3.2.1.76, L-iduronidase, α-L-iduronidase, laronidase), sold as Aldurazyme, is an enzyme with the systematic name glycosaminoglycan α-L-iduronohydrolase. (wikipedia.org)
  • Aldurazyme is the name of the commercialized variant of the enzyme iduronidase, which hydrolyzes the α-L-iduronic acid residues of dermatan sulfate and heparin sulfate. (wikipedia.org)
  • The underlying mechanism is a deficiency of alpha-L iduronidase , an enzyme responsible for breaking down GAGs. (plutoniumori771.click)
  • Mucopolysaccharidosis type I (MPS I) is an autosomal recessive lysosomal storage disorder resulting from deficiency of the enzyme α-L-iduronidase. (medicalhomeportal.org)
  • Mucopolysaccharidosis kind I (MPS I) is an inherited metabolic dysfunction brought on by deficiency of the lysosomal enzyme alpha-L-iduronidase (IDUA). (korilog.com)
  • Secondary and exploratory endpoints include biomarkers of α-l-iduronidase (IDUA) enzyme activity in the cerebrospinal fluid (CSF), serum and urine, neurodevelopmental assessments, and caregiver reported outcomes. (onempsvoice.com)
  • Whole-exome sequencing confirmed the diagnosis of MPS I, following the observation of low levels of the enzyme α-L-iduronidase. (mdpi.com)
  • Mucopolysaccharidosis type I (MPS I) is a genetic disorder in which there is a deficiency in alpha-L-iduronidase (IDUA gene) enzyme expression, responsible for the lysosomal degradation of two glycosaminoglycans. (fapesp.br)
  • They introduced into these cells a lentiviral vector encoding the enzyme α-L-iduronidase (IDUA), which is lacking in Hurler syndrome patients, under the control of the human phosphoglycerate kinase 1 gene promoter. (institut-servier.com)
Lysosomal enzymes2
  • The mucopolysaccharidoses (MPSs) are a family of metabolic disorders caused by deficiency of lysosomal enzymes needed to degrade glycosaminoglycans (GAGs), or mucopolysaccharides. (medscape.com)
  • The turnover of these molecules depends on their subsequent internalization by endocytosis, their delivery to the lysosomes, and their digestion by lysosomal enzymes. (medscape.com)
HSCT2
  • The clinician can discuss potential therapeutic and treatment options for MPS I in a time-sensitive manner and help families weigh the benefits and risks related to enzyme replacement therapy (ERT), hematopoietic stem cell transplants (HSCT), and the many surgical interventions that may be recommended. (medicalhomeportal.org)
  • Children with MPS I are treated by hematopoietic stem cell transplantation (HSCT), enzyme replacement therapy (ERT), or a combination of both. (medicalhomeportal.org)
Dermatan sulfate1
  • : 544 Without this enzyme, a buildup of dermatan sulfate and heparan sulfate occurs in the body. (plutoniumori771.click)
Heparan1
  • Moreover, IDUA became detectable in the cerebrospinal fluid, while GAG levels fell, from a median of 2378 ng/mL at baseline to 335 ng/mL at 6 months in the case of heparan sulphate, for example. (institut-servier.com)
Immunosorbent assay5
Deficiency of an enzyme1
  • Mucopolysaccharidoses (MPSs) are a group of lysosomal storage diseases, each of which is produced by an inherited deficiency of an enzyme involved in the degradation of acid mucopolysaccharides, now called glycosaminoglycans (GAGs). (medscape.com)
Hurler1
  • Children with Hurler syndrome carry two defective copies of the IDUA gene, which has been mapped to the 4p16.3 site on chromosome 4 . (plutoniumori771.click)
Glycosaminoglycan1
  • But the company said further data due later this year would show whether the changes in toxic glycosaminoglycan levels, and leukocyte IDUA enzyme activity, will produce meaningful benefits in the patients. (pharmaphorum.com)
Mucopolysaccharidoses1
  • A deficiency in the IDUA protein is associated with mucopolysaccharidoses (MPS). (wikipedia.org)
Specific enzyme deficiency1
  • Phenotypic variability (heterogeneity) is very much a feature of MPS disease, and within each specific enzyme deficiency there is a very wide spectrum of clinical effects. (mhmedical.com)
Mucopolysaccharidosis2
  • Yano S, Moseley K, Pavlova Z. Postmortem studies on a patient with mucopolysaccharidosis type I: Histopathological findings after one year of enzyme replacement therapy. (medscape.com)
  • In particular, her recent AAV-IDUA toxicity study added critical data required for the initiation of a Phase I clinical trial for the AAV-mediated gene therapy of corneal blindness of Mucopolysaccharidosis type I. (unc.edu)
Replacement therapy5
  • For those with attenuated MPS I who elect to have ERT, initial infusions should be carried out in a hospital-based unit familiar with potential adverse events of enzyme replacement therapy. (medicalhomeportal.org)
  • There have been many advances in clinical care for cystic fibrosis during the past 50 years, such as the widespread implementation of newborn screening for early diagnosis, enhanced mucociliary clearance techniques, and improvements in nutrition (including adjusted pancreatic enzyme replacement therapy and a high-energy, high-fat diet). (cdc.gov)
  • Enzyme replacement therapy and stem cell transplantation can help reduce the severity of symptoms and improve overall quality of life. (ineedmedic.com)
  • Before the development of enzyme replacement therapy, management of these conditions consisted of supportive care and treatment of the complications. (conduent.com)
  • There is high interest in research for safe and effective treatments of MPS disorders in cats, with options such as enzyme replacement therapy and gene therapy showing promise. (wisdompanel.com)
Pancreatic1
  • Pancreatic enzyme replacement is indicated for the treatment of exocrine pancreatic insufficiency due to cystic fibrosis or other conditions. (conduent.com)
Mutation1
  • Affected individuals are either homozygous for a single pathogenic mutation or compound heterozygous for two different pathogenic variants affecting the function of the pyruvate kinase enzyme in red blood cells and liver. (conduent.com)
Lysosomes1
  • It is a glycoprotein enzyme found in the lysosomes of cells. (wikipedia.org)
Glb11
  • Together, neuraminidase 1, cathepsin A (Ctsa gene) and beta-galactosidase (Glb1 gene) enzymes belong to the lysosomal multienzyme complex (LMC), associated to some important functions like neuronal apoptosis. (fapesp.br)
Activity5
  • The children were followed up for between 1.46 and 2.90 years, during which all eight attained supraphysiological levels of IDUA, at a median of 108.0 μmol/L per hour, compared with 11.1 μmol/L per hour in age-matched healthy children, which resulted in normalised IDUA activity in the plasma. (institut-servier.com)
  • enzyme activity. (mhmedical.com)
  • Heterozygote detection based on enzyme activity alone is inaccurate and is now, fortunately, no longer necessary, as the genes encoding the enzymes involved in GAG catabolism have been identified and sequenced. (mhmedical.com)
  • 12q14 (Sanfilippo syndrome): The diagnosis requires a specific lysosomal enzyme assay for glucosamine (N -acetyl)-6-sulfatase (GNS) activity. (medscape.com)
  • Development of flow cytometry assays for measuring cell-membrane enzyme activity on individual cells. (mouseanti.com)
Clinical1
  • Investors want to know if that level of enzyme is enough to show a clinical benefit and there was nothing about that in (Sangamo's) press release," said Moussatos. (pharmaphorum.com)
Therapy2
  • The gene therapy technique used by the researchers involved inserting healthy copies of the IDUA gene into the cells of patients with Hunter syndrome. (newsnowworld.com)
  • Recombinant adeno-associated viruses (AAV) are one of the leading vectors for gene therapy applications that deliver gene-editing enzymes, antibodies, and RNA interference molecules to eliminate viral reservoirs that fuel persistent infections. (biomedcentral.com)
Differ2
  • however, these enzymes may differ in their effects. (conduent.com)
  • Stomach acid and enzymes RNA molecules differ from DNA molecules because only RNA: C) attach to the 30S ribosomal subunit and disrupt protein synthesis. (workflowdigital.com)
Tissues1
  • Without this enzyme, these sugars accumulate in various tissues throughout the body, leading to a wide range of symptoms and complications. (ineedmedic.com)
Disease1
  • A preliminary analysis showed one out of three patients at the lowest dose showed low levels of the microdystrophin enzyme, which is needed to correct the muscle wasting disease, at below 5% of normal levels in a western blot test. (pharmaphorum.com)
Liver2
  • Sangamo had been using a technique known as "zinc fingers" to edit patients' DNS, allowing liver cells to produce the enzyme known as IDS. (pharmaphorum.com)
  • The researchers targeted the liver, which is the primary site of IDUA production, using a harmless virus to deliver the therapeutic gene. (newsnowworld.com)
Diagnosis1
  • Prenatal diagnosis of this enzyme deficiency is possible. (wikipedia.org)
Molecules1
  • The enzyme acts by hydrolyzing the terminal α-L-iduronic acid residues of these molecules, degrading them. (wikipedia.org)
Dose1
  • Members should be reevaluated after any changes in enzyme preparation or dose. (conduent.com)
Production1
  • Lactose ingested with food is not sufficiently broken down due to reduced production of the digestive enzyme lactase. (medicover-genetics.com)
Responsible1
  • This enzyme is responsible for breaking down certain complex sugars in the body. (ineedmedic.com)
Present1
  • The enzyme was present in 10% of muscle fibres in the patient. (pharmaphorum.com)