Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (IDURONIDASE) and characterized by progressive physical deterioration with urinary excretion of DERMATAN SULFATE and HEPARAN SULFATE. There are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler syndrome, Hurler-Scheie syndrome and Scheie syndrome (formerly mucopolysaccharidosis V). Symptoms may include DWARFISM; hepatosplenomegaly; thick, coarse facial features with low nasal bridge; corneal clouding; cardiac complications; and noisy breathing.
An enzyme that hydrolyzes iduronosidic linkages in desulfated dermatan. Deficiency of this enzyme produces Hurler's syndrome. EC 3.2.1.76.
Mucopolysaccharidosis with excessive CHONDROITIN SULFATE B in urine, characterized by dwarfism and deafness. It is caused by a deficiency of N-ACETYLGALACTOSAMINE-4-SULFATASE (arylsulfatase B).
Mucopolysaccharidosis characterized by excessive dermatan and heparan sulfates in the urine and Hurler-like features. It is caused by a deficiency of beta-glucuronidase.
Mucopolysaccharidosis characterized by heparitin sulfate in the urine, progressive mental retardation, mild dwarfism, and other skeletal disorders. There are four clinically indistinguishable but biochemically distinct forms, each due to a deficiency of a different enzyme.
Therapeutic replacement or supplementation of defective or missing enzymes to alleviate the effects of enzyme deficiency (e.g., GLUCOSYLCERAMIDASE replacement for GAUCHER DISEASE).
Systemic lysosomal storage disease marked by progressive physical deterioration and caused by a deficiency of L-sulfoiduronate sulfatase. This disease differs from MUCOPOLYSACCHARIDOSIS I by slower progression, lack of corneal clouding, and X-linked rather than autosomal recessive inheritance. The mild form produces near-normal intelligence and life span. The severe form usually causes death by age 15.
Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency.
Heteropolysaccharides which contain an N-acetylated hexosamine in a characteristic repeating disaccharide unit. The repeating structure of each disaccharide involves alternate 1,4- and 1,3-linkages consisting of either N-acetylglucosamine or N-acetylgalactosamine.
Genetic disorder of mucopolysaccharide metabolism characterized by skeletal abnormalities, joint instability, development of cervical myelopathy, and excessive urinary keratan sulfate. There are two biochemically distinct forms, each due to a deficiency of a different enzyme.
Component of dermatan sulfate. Differs in configuration from glucuronic acid only at the C-5 position.
An arylsulfatase that catalyzes the hydrolysis of the 4-sulfate groups of the N-acetyl-D-galactosamine 4-sulfate units of chondroitin sulfate and dermatan sulfate. A deficiency of this enzyme is responsible for the inherited lysosomal disease, Maroteaux-Lamy syndrome (MUCOPOLYSACCHARIDOSIS VI). EC 3.1.6.12.
The domestic dog, Canis familiaris, comprising about 400 breeds, of the carnivore family CANIDAE. They are worldwide in distribution and live in association with people. (Walker's Mammals of the World, 5th ed, p1065)
An enzyme from the sulfuric ester hydrolase class that breaks down one of the products of the chondroitin lyase II reaction. EC 3.1.6.9.
An enzyme that specifically cleaves the ester sulfate of iduronic acid. Its deficiency has been demonstrated in Hunter's syndrome, which is characterized by an excess of dermatan sulfate and heparan sulfate. EC 3.1.6.13.
A group of enzymes that catalyze the hydrolysis of various sulfate bonds of chondroitin sulfate. EC 3.1.6.-.
Glucuronidase is an enzyme (specifically, a glycosidase) that catalyzes the hydrolysis of glucuronic acid from various substrates, playing crucial roles in metabolic processes like detoxification and biotransformation within organisms.

Genetically corrected autologous stem cells engraft, but host immune responses limit their utility in canine alpha-L-iduronidase deficiency. (1/191)

Canine alpha-L-iduronidase (alpha-ID) deficiency, a model of the human storage disorder mucopolysaccharidosis type I (MPS I), is an ideal system in which to evaluate the clinical benefit of genetically corrected hematopoietic stem cells. We performed adoptive transfer of genetically corrected autologous hematopoietic cells in dogs with alpha-ID deficiency. Large volume marrow collections were performed on five alpha-ID-deficient dogs. Marrow mononuclear cells in long-term marrow cultures (LTMCs) were exposed on three occasions during 3 weeks of culture to retroviral vectors bearing the normal canine alpha-ID cDNA. Transduced LTMC cells from deficient dogs expressed enzymatically active alpha-ID at 10 to 200 times the levels seen in normal dogs. An average of 32% of LTMC-derived clonogenic hematopoietic cells were provirus positive by polymerase chain reaction and about half of these expressed alpha-ID. Approximately 10(7) autologous gene-modified LTMC cells/kg were infused into nonmyeloablated recipients. Proviral DNA was detected in up to 10% of individual marrow-derived hematopoietic colonies and in 0.01% to 1% of blood and marrow leukocytes at up to 2 to 3 years postinfusion. Despite good evidence for engraftment of provirally marked cells, neither alpha-ID enzyme nor alpha-ID transcripts were detected in any dog. We evaluated immune responses against alpha-ID and transduced cells. Humoral responses to alpha-ID and serum components of the culture media (fetal bovine and horse sera and bovine serum albumin) were identified by enzyme-linked immunosorbent assay. Cellular immune responses to autologous alpha-ID but not neo(r) transduced cells were demonstrated by lymphocyte proliferation assays. To abrogate potential immune phenomena, four affected dogs received posttransplant cyclosporine A. Whereas immune responses were dampened in these dogs, alpha-ID activity remained undetectable. In none of the dogs engrafted with genetically corrected cells was there evidence for clinical improvement. Our data suggest that, whereas the alpha-ID cDNA may be transferred and maintained in approximately 5% of hematopoietic progenitors, the potential of this approach appears limited by the levels of provirally derived enzyme that are expressed in vivo and by the host's response to cultured and transduced hematopoietic cells expressing foreign proteins.  (+info)

Combined aortic and mitral stenosis in mucopolysaccharidosis type I-S (Ullrich-Scheie syndrome). (2/191)

The genetic mucopolysaccharidosis syndromes (MPS) are autosomal recessive inborn errors of metabolism. Heart valve involvement in MPS is not uncommon but only a few case reports of successful cardiac surgery are available. In particular, reports of combined aortic and mitral stenosis associated with MPS type I-S are very rare. Both type I and type VI MPS are associated with significant left sided valvar heart disease that requires surgical valve replacement because of irregular valve thickening, fibrosis, and calcification. A 35 year old man had severe mitral valve stenosis after successful surgical replacement of a stenotic aortic valve. Valvar heart disease was investigated by cardiac ultrasound and left heart catheterisation. Histomorphological characterisation of the affected mitral valve was performed. The case illustrates typically associated clinical features of cardiac and extracardiac abnormalities found in MPS type I-S.  (+info)

Fluorometric measurement of urinary alpha-L-iduronidase activity. (3/191)

A fluorogenic substrate for alpha-L-iduronidase, 4-methylumbelliferyl alpha-L-iduronide, has been newly synthesized and the enzyme activity has been measured in urine samples obtained from normal persons and patients suffering from mucopolysaccharidosis. Urine samples derived from a patient with Scheie syndrome showed greatly reduced activity compared with a normal adult at a similar age. This patient exhibited a high level of urinary excretion of dermatan sulfate and heparan sulfate, which could be interpreted in terms of her low alpha-L-iduronidase activity. The use of the fluorogenic substrate has some advantages over existing methods because of the high sensitivity and the relative ease of handling, and it should be useful not only for diagnosis but also for following the purification process of the enzyme.  (+info)

Impaired elastogenesis in Hurler disease: dermatan sulfate accumulation linked to deficiency in elastin-binding protein and elastic fiber assembly. (4/191)

Hurler disease resulting from a deficiency in alpha-L-iduronidase, which causes an accumulation of dermatan sulfate and heparan sulfate glycosaminoglycans, is characterized by connective tissue and skeletal deformations, cardiomyopathy, cardiac valve defects, and progressive coronary artery stenosis. In this report, we present evidence that accumulation of dermatan sulfate but not heparan sulfate moieties is linked to impaired elastic fiber assembly that, in turn, contributes substantially to the development of the clinical phenotype in Hurler disease. Our data suggest that dermatan sulfate-bearing moieties bind to and cause functional inactivation of the 67-kd elastin-binding protein, a molecular chaperone for tropoelastin, which normally facilitates its secretion and assembly into elastic fibers. We demonstrate that, in contrast to normal skin fibroblasts and cells from Sanfilippo disease, which accumulate heparan sulfate, Hurler fibroblasts show reduced expression of elastin-binding protein and do not assemble elastic fibers, despite an adequate synthesis of tropoelastin and sufficient production of a microfibrillar scaffold of elastic fibers. Because cultured Hurler fibroblasts proliferate more quickly than their normal counterparts and the addition of exogenous insoluble elastin reduces their proliferation, we suggest that cell contacts with insoluble elastin play an important role in controlling their proliferation.  (+info)

Retroviral vector design studies toward hematopoietic stem cell gene therapy for mucopolysaccharidosis type I. (5/191)

To optimize a gene transfer system for hematopoietic stem cell gene therapy of patients with mucopolysaccharidosis (MPS) type I, 10 retroviral vectors were constructed to express the human alpha-L-iduronidase (IDUA) cDNA. These vectors were designed to evaluate the potential effects of specific promoters, the addition of selectable markers, and the use of multiple promoters versus an internal ribosome entry site for expression of IDUA and selectable maker genes. The effect of vector design was investigated in primary patient fibroblasts (F(MPS)) or murine fibroblast cell lines; while overall comparison of transgene expression was determined in patients' peripheral blood lymphocytes (PBL(MPS)) and CD34+ progenitors (PBPC(MPS)). We observed that the human PGK promoter introduced the highest IDUA activity per 1% relative transgene frequency in F(MPS). Use of the same promoter to separately regulate both the therapeutic gene and a drug-resistance gene resulted in decreased expression of the unselected gene. Co-selection using bicistronic vectors not only increased the number of transductants, but also elevated transgene expression under selective pressure in transgene-positive progenitors. Bicistronic vector LP1CD overcame down-regulation and practically introduced the highest IDUA level in unselected PBL(MPS) and an intermediate level in PBPC(MPS). These studies provide a better understanding of factors contributing to efficient gene expression in hematopoietic cells.  (+info)

Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation. (6/191)

Hurler syndrome is the most severe form of a lysosomal storage disease caused by loss of the enzyme alpha-L-iduronidase (encoded by the IDUA gene), which participates in the degradation of glycosaminoglycans (GAGs) within the lysosome. In some populations, premature stop mutations represent roughly two-thirds of the mutations that cause Hurler syndrome. In this study we investigated whether the aminoglycoside gentamicin can suppress stop mutations within the IDUA gene. We found that a Hurler syndrome fibroblast cell line heterozygous for the IDUA stop mutations Q70X and W402X showed a significant increase in alpha-L-iduronidase activity when cultured in the presence of gentamicin, resulting in the restoration of 2.8% of normal alpha-L-iduronidase activity. Determination of alpha-L-iduronidase protein levels by an immunoquantification assay indicated that gentamicin treatment produced a similar increase in alpha-L-iduronidase protein in Hurler cells. Both the alpha-L-iduronidase activity and protein level resulting from this treatment have previously been correlated with mild Hurler phenotypes. Although Hurler fibroblasts contain a much higher level of GAGs than normal, we found that gentamicin treatment reduced GAG accumulation in Hurler cells to a normal level. We also found that a reduced GAG level could be sustained for at least 2 days after gentamicin treatment was discontinued. The reduction in the GAG level was also reflected in a marked reduction in lysosomal vacuolation. Taken together, these results suggest that the suppression of premature stop mutations may provide an effective treatment for Hurler syndrome patients with premature stop mutations in the IDUA gene.  (+info)

Enzyme-replacement therapy in mucopolysaccharidosis I. (7/191)

BACKGROUND: Mucopolysaccharidosis I is a lysosomal storage disease caused by a deficiency of the enzyme alpha-L-iduronidase. We evaluated the effect of enzyme-replacement therapy with recombinant human alpha-L-iduronidase in patients with this disorder. METHODS: We treated 10 patients with mucopolysaccharidosis I (age, 5 to 22 years) with recombinant human alpha-L-iduronidase at a dose of 125,000 U per kilogram of body weight given intravenously once weekly for 52 weeks. The patients were evaluated at base line and at 6, 12, 26, and 52 weeks by detailed clinical examinations, magnetic resonance imaging of the abdomen and brain, echocardiography, range-of-motion measurements, polysomnography, clinical laboratory evaluations, measurements of leukocyte alpha-L-iduronidase activity, and urinary glycosaminoglycan excretion. RESULTS: Hepatosplenomegaly decreased significantly in all patients, and the size of the liver was normal for body weight and age in eight patients by 26 weeks. The rate of growth in height and weight increased by a mean of 85 and 131 percent, respectively, in the six prepubertal patients. The mean maximal range of motion of shoulder flexion and elbow extension increased significantly. The number of episodes of apnea and hypopnea during sleep decreased 61 percent. New York Heart Association functional class improved by one or two classes in all patients. Urinary glycosaminoglycan excretion decreased after 3 to 4 weeks of treatment; the mean reduction was 63 percent of base-line values. Five patients had transient urticaria during infusions. Serum antibodies to alpha-L-iduronidase were detected in four patients. CONCLUSIONS: In patients with mucopolysaccharidosis I, treatment with recombinant human alpha-L-iduronidase reduces lysosomal storage in the liver and ameliorates some clinical manifestations of the disease.  (+info)

Oral busulfan pharmacokinetics and engraftment in children with Hurler syndrome and other inherited metabolic storage diseases undergoing hematopoietic cell transplantation. (8/191)

Allogeneic hematopoietic cell transplantation (HCT) is the only treatment for selected inherited metabolic storage diseases (IMSD); a significant shortcoming is failure to achieve donor-derived engraftment. This study was undertaken to determine whether busulfan pharmacokinetics (BU PK) are altered in children with IMSD and whether BU concentrations are important in achieving engraftment. BU samples were obtained from 39 IMSD children, including 20 children with Hurler syndrome, undergoing HCT. Patients received oral BU (40 mg/m(2)/dose x 8 doses), cyclophosphamide (60 mg/kg/day x 2 doses) and TBI (750 cGy in one fraction) as a preparative regimen. Median (range) oral clearance corrected for bioavailability (Cl/F in ml/min/kg), area under the curve (AUC in ng min/ml) and BU plasma concentration (Cp in ng/ml) with the fourth dose were 5.2 (2.1-11.4), 318 294 (112 893-640 995) and 950 (314-1780), respectively. Children < 3 years of age had lower AUC and Cp but higher Cl/F (P < or = 0.03). BU Cp (P = 0.06) or marrow cell dose (P = 0.32) was not different in Hurler syndrome compared to other IMSD. A median BU Cp of 959 and 831 ng/ml was achieved in children with full and failed early engraftment, respectively. There was no difference in early and late engraftment between children with Hurler and other IMSD. In conclusion, we found no significant association between engraftment, marrow cell dose and BU exposure when combined with CY and TBI in children with IMSD.  (+info)

Mucopolysaccharidosis I (MPS I) is a rare genetic disorder caused by the deficiency of an enzyme called alpha-L-iduronidase. This enzyme is responsible for breaking down complex sugars called glycosaminoglycans (GAGs), also known as mucopolysaccharides, in the body.

When the enzyme is deficient, GAGs accumulate in various tissues and organs, leading to a range of symptoms that can affect different parts of the body, including the skeletal system, heart, respiratory system, eyes, and central nervous system. There are three subtypes of MPS I: Hurler syndrome (the most severe form), Hurler-Scheie syndrome (an intermediate form), and Scheie syndrome (the least severe form).

The symptoms and severity of MPS I can vary widely depending on the specific subtype, with Hurler syndrome typically causing more significant health problems and a shorter life expectancy than the other two forms. Treatment options for MPS I include enzyme replacement therapy, bone marrow transplantation, and various supportive therapies to manage symptoms and improve quality of life.

Iduronidase is a type of enzyme that helps break down complex sugars called glycosaminoglycans (GAGs) in the body. Specifically, iduronidase is responsible for breaking down a type of GAG called dermatan sulfate and heparan sulfate.

Deficiency or absence of this enzyme can lead to a genetic disorder known as Mucopolysaccharidosis Type I (MPS I), which is characterized by the accumulation of GAGs in various tissues and organs, leading to progressive damage and impairment. There are two forms of MPS I: Hurler syndrome, which is the severe form, and Scheie syndrome, which is the milder form.

Iduronidase replacement therapy is available for the treatment of MPS I, in which the missing enzyme is delivered directly to the patient's body through intravenous infusion. This helps break down the accumulated GAGs and prevent further damage to the tissues and organs.

Mucopolysaccharidosis VI (MPS VI), also known as Maroteaux-Lamy syndrome, is a rare genetic disorder caused by the deficiency of an enzyme called N-acetylgalactosamine 4-sulfatase. This enzyme is responsible for breaking down complex sugars called glycosaminoglycans (GAGs) or mucopolysaccharides, which are found in various tissues and organs throughout the body.

When the enzyme is deficient, GAGs accumulate within the lysosomes of cells, leading to cellular dysfunction and tissue damage. This accumulation results in a range of symptoms that can affect multiple organ systems, including the skeletal system, cardiovascular system, respiratory system, and central nervous system.

The signs and symptoms of MPS VI can vary widely among affected individuals, but common features include: coarse facial features, short stature, stiff joints, restricted mobility, recurrent respiratory infections, hearing loss, heart valve abnormalities, and clouding of the cornea. The severity of the disease can range from mild to severe, and life expectancy is generally reduced in individuals with more severe forms of the disorder.

MPS VI is inherited as an autosomal recessive trait, which means that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition.

Mucopolysaccharidosis (MPS) VII, also known as Sly syndrome, is a rare genetic disorder caused by the deficiency of the enzyme beta-glucuronidase. This enzyme is responsible for breaking down complex sugars called glycosaminoglycans (GAGs), or mucopolysaccharides, in the body. When this enzyme is not present in sufficient amounts, GAGs accumulate in various tissues and organs, leading to progressive damage.

The symptoms of MPS VII can vary widely, but often include coarse facial features, short stature, skeletal abnormalities, hearing loss, heart problems, and intellectual disability. Some individuals with MPS VII may also have cloudy corneas, enlarged liver and spleen, and difficulty breathing due to airway obstruction. The severity of the condition can range from mild to severe, and life expectancy is often reduced in those with more severe symptoms.

MPS VII is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene (one from each parent) in order to develop the condition. Treatment for MPS VII typically involves enzyme replacement therapy, which can help to slow down the progression of the disease and improve some symptoms. However, there is currently no cure for this condition.

Mucopolysaccharidosis III, also known as Sanfilippo syndrome, is a genetic disorder caused by the deficiency of specific enzymes needed to break down complex sugar molecules called glycosaminoglycans (GAGs) or mucopolysaccharides. This results in an accumulation of these substances in various tissues and organs, leading to progressive damage.

There are four main types of Mucopolysaccharidosis III (A, B, C, and D), each caused by a deficiency in one of the following enzymes: heparan N-sulfatase (type A), alpha-N-acetylglucosaminidase (type B), acetyl-CoAlpha-glucosaminide acetyltransferase (type C), or N-acetylglucosamine 6-sulfatase (type D).

The symptoms of Mucopolysaccharidosis III typically become apparent between the ages of 2 and 6, and may include developmental delays, hyperactivity, behavioral problems, sleep disturbances, coarse facial features, hirsutism, hepatosplenomegaly (enlarged liver and spleen), and joint stiffness. Over time, individuals with Mucopolysaccharidosis III may experience a decline in cognitive abilities, loss of previously acquired skills, and mobility issues.

Currently, there is no cure for Mucopolysaccharidosis III, and treatment is focused on managing the symptoms and improving quality of life. Enzyme replacement therapy, gene therapy, and stem cell transplantation are some of the experimental treatments being investigated for this condition.

Enzyme Replacement Therapy (ERT) is a medical treatment approach in which functional copies of a missing or deficient enzyme are introduced into the body to compensate for the lack of enzymatic activity caused by a genetic disorder. This therapy is primarily used to manage lysosomal storage diseases, such as Gaucher disease, Fabry disease, Pompe disease, and Mucopolysaccharidoses (MPS), among others.

In ERT, the required enzyme is produced recombinantly in a laboratory using biotechnological methods. The purified enzyme is then administered to the patient intravenously at regular intervals. Once inside the body, the exogenous enzyme is taken up by cells, particularly those affected by the disorder, and helps restore normal cellular functions by participating in essential metabolic pathways.

ERT aims to alleviate disease symptoms, slow down disease progression, improve quality of life, and increase survival rates for patients with lysosomal storage disorders. However, it does not cure the underlying genetic defect responsible for the enzyme deficiency.

Mucopolysaccharidosis II (MPS II), also known as Hunter syndrome, is a rare X-linked recessive genetic disorder caused by the deficiency of an enzyme called iduronate sulfatase. This enzyme is responsible for breaking down complex sugars called glycosaminoglycans (GAGs) or mucopolysaccharides in the body.

When this enzyme is missing or not functioning properly, GAGs accumulate in various tissues and organs, leading to progressive cellular damage and organ dysfunction. The symptoms of MPS II can vary widely but often include developmental delays, coarse facial features, hearing loss, airway obstruction, heart problems, enlarged liver and spleen, and joint stiffness.

The severity of the disease can range from mild to severe, with some individuals experiencing only moderate symptoms while others may have significant intellectual disability and life-threatening complications. Treatment options for MPS II include enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT), but there is currently no cure for the disease.

Mucopolysaccharidoses (MPS) are a group of inherited metabolic disorders caused by the deficiency of specific enzymes needed to break down complex sugars called glycosaminoglycans (GAGs or mucopolysaccharides). As a result, these GAGs accumulate in various tissues and organs, leading to progressive cellular damage and multi-organ dysfunction. There are several types of MPS, including Hurler syndrome, Hunter syndrome, Sanfilippo syndrome, Morquio syndrome, Maroteaux-Lamy syndrome, and Sly syndrome, each resulting from a deficiency in one of the eleven different enzymes involved in GAGs metabolism. The clinical presentation, severity, and prognosis vary among the types but commonly include features such as developmental delay, coarse facial features, skeletal abnormalities, hearing loss, heart problems, and reduced life expectancy.

Glycosaminoglycans (GAGs) are long, unbranched polysaccharides composed of repeating disaccharide units. They are a major component of the extracellular matrix and connective tissues in the body. GAGs are negatively charged due to the presence of sulfate and carboxyl groups, which allows them to attract positively charged ions and water molecules, contributing to their ability to retain moisture and maintain tissue hydration and elasticity.

GAGs can be categorized into four main groups: heparin/heparan sulfate, chondroitin sulfate/dermatan sulfate, keratan sulfate, and hyaluronic acid. These different types of GAGs have varying structures and functions in the body, including roles in cell signaling, inflammation, and protection against enzymatic degradation.

Heparin is a highly sulfated form of heparan sulfate that is found in mast cells and has anticoagulant properties. Chondroitin sulfate and dermatan sulfate are commonly found in cartilage and contribute to its resiliency and ability to withstand compressive forces. Keratan sulfate is found in corneas, cartilage, and bone, where it plays a role in maintaining the structure and function of these tissues. Hyaluronic acid is a large, nonsulfated GAG that is widely distributed throughout the body, including in synovial fluid, where it provides lubrication and shock absorption for joints.

Mucopolysaccharidosis IV (MPS IV), also known as Morquio Syndrome, is a rare genetic disorder that belongs to the family of diseases called mucopolysaccharidoses. It is characterized by the accumulation of glycosaminoglycans (GAGs or mucopolysaccharides) in various tissues and organs due to deficiencies in specific enzymes needed to break down these complex carbohydrates.

There are two types of MPS IV: Type A and Type B, which are caused by deficiencies in different enzymes (GALNS and B3GALNT1, respectively). Both types result in similar symptoms but may vary in severity. The accumulation of GAGs primarily affects the bones, cartilage, eyes, ears, heart, and respiratory system.

Common features of MPS IV include:
* Dwarfism with short trunk and long limbs
* Progressive skeletal abnormalities such as kyphosis (hunchback), scoliosis (curvature of the spine), pectus carinatum (protruding breastbone), and joint laxity or stiffness
* Coarse facial features
* Corneal clouding
* Hearing loss
* Heart valve abnormalities
* Respiratory issues
* Hypermobile and dislocated joints
* Carpal tunnel syndrome
* Spinal cord compression

Treatment for MPS IV primarily focuses on managing symptoms, improving quality of life, and preventing complications. Enzyme replacement therapy (ERT) is available for Type B but not for Type A. Other treatments may include physical therapy, surgery, and medications to address specific symptoms.

Iduronic acid is a type of uronic acid, which is a derivative of glucose. It is a component of certain complex carbohydrates known as glycosaminoglycans (GAGs) or mucopolysaccharides, which are found in the extracellular matrix and on the surface of cells in the body. Specifically, iduronic acid is a component of dermatan sulfate and heparan sulfate, two types of GAGs that play important roles in various biological processes such as cell signaling, growth factor regulation, and blood clotting.

Iduronic acid has an unusual structure compared to other sugars because it contains a five-membered ring instead of the more common six-membered ring found in most other sugars. This unique structure allows iduronic acid to form complex structures with other sugar molecules, which is important for the biological activity of GAGs.

Abnormalities in the metabolism of iduronic acid and other GAG components can lead to various genetic disorders known as mucopolysaccharidoses (MPS), which are characterized by a range of symptoms including developmental delays, coarse facial features, skeletal abnormalities, and cardiac problems.

N-Acetylgalactosamine-4-Sulfatase is an enzyme that is responsible for breaking down complex carbohydrates in the body. Its specific function is to remove a sulfate group from a particular type of sugar molecule called N-acetylgalactosamine-4-sulfate, which is found on certain proteoglycans (large, complex sugars attached to proteins) in the body.

This enzyme plays an important role in the normal functioning of cells and tissues, particularly in the development and maintenance of bones, cartilage, and other connective tissues. Deficiencies in this enzyme can lead to a rare genetic disorder called Morquio A syndrome (also known as MPS IVA), which is characterized by skeletal abnormalities, short stature, and other health problems.

I believe there might be a misunderstanding in your question. "Dogs" is not a medical term or condition. It is the common name for a domesticated carnivore of the family Canidae, specifically the genus Canis, which includes wolves, foxes, and other extant and extinct species of mammals. Dogs are often kept as pets and companions, and they have been bred in a wide variety of forms and sizes for different purposes, such as hunting, herding, guarding, assisting police and military forces, and providing companionship and emotional support.

If you meant to ask about a specific medical condition or term related to dogs, please provide more context so I can give you an accurate answer.

Chondro-4-sulfatase is an enzyme that belongs to the family of hydrolases, specifically those acting on ester bonds in sulfuric acid esters. It is responsible for catalyzing the hydrolysis of the 4-sulfate ester group from N-acetylgalactosamine 4-sulfate residues found in chondroitin 4-sulfate, a type of glycosaminoglycan (GAG) that is abundant in connective tissues such as cartilage.

Chondroitin 4-sulfate plays important roles in the structure and function of the extracellular matrix, including regulating cell adhesion, migration, and differentiation. The action of chondro-4-sulfatase helps to control the balance between sulfated and non-sulfated GAG chains, which is critical for maintaining normal tissue homeostasis.

Defects in chondro-4-sulfatase activity can lead to a rare genetic disorder called chondrodysplasia punctata type 1B (CDPX1B), also known as multiple sulfatase deficiency (MSD). This condition is characterized by skeletal abnormalities, developmental delay, and other neurological symptoms.

Iduronate sulfatase is an enzyme that plays a crucial role in the breakdown and recycling of complex sugars called glycosaminoglycans (GAGs). These GAGs are important components of various tissues, including connective tissues, bones, and cartilage.

Iduronate sulfatase is specifically responsible for breaking down a type of GAG known as dermatan sulfate and heparan sulfate by removing sulfate groups from specific sugar molecules in these GAGs. This enzyme is located in the lysosomes, which are membrane-bound organelles within cells that break down and recycle various materials.

Deficiency of iduronate sulfatase leads to a genetic disorder called Mucopolysaccharidosis Type II (MPS II), also known as Hunter syndrome. In this condition, the lack of functional iduronate sulfatase enzyme results in an accumulation of dermatan sulfate and heparan sulfate in various tissues and organs, leading to progressive damage and a range of symptoms, including developmental delays, coarse facial features, hearing loss, heart problems, and joint stiffness.

Chondroitin sulfatases are a group of enzymes that break down chondroitin sulfate, which is a type of glycosaminoglycan (GAG) found in connective tissues such as cartilage, bone, and skin. Glycosaminoglycans are long, complex chains of sugars that help provide structure, hydration, and elasticity to these tissues.

Chondroitin sulfate is composed of alternating units of glucuronic acid and N-acetylgalactosamine, with various sulfate groups attached at different positions along the chain. Chondroitin sulfatases cleave specific bonds within this structure to help regulate the turnover and remodeling of GAGs in tissues.

There are several types of chondroitin sulfatases (designated as chondroitin sulfatase A, B, C, D, etc.), each with distinct substrate specificities and cellular localizations. Defects in these enzymes can lead to various genetic disorders, such as skeletal dysplasias and neurodegenerative diseases, due to the accumulation of unprocessed or partially degraded chondroitin sulfate in tissues.

Glucuronidase is an enzyme that catalyzes the hydrolysis of glucuronic acid from various substrates, including molecules that have been conjugated with glucuronic acid as part of the detoxification process in the body. This enzyme plays a role in the breakdown and elimination of certain drugs, toxins, and endogenous compounds, such as bilirubin. It is found in various tissues and organisms, including humans, bacteria, and insects. In clinical contexts, glucuronidase activity may be measured to assess liver function or to identify the presence of certain bacterial infections.

... 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 ... Lysosomal disorders like mucopolysaccharidosis are triggered when a particular enzyme exists in too small an amount or is ...
... 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 ...
ISBN 978-0-7216-2921-6. "Mucopolysaccharidosis". "MUCOPOLYSACCHARIDOSIS, TYPE IX;MPS9". Clinical and Biochemical Manifestations ...
"Mucopolysaccharidosis type VI". MedlinePlus. Retrieved 25 February 2023. "Mucopolysaccharidoses Fact Sheet". National Institute ... Maroteaux-Lamy syndrome, or Mucopolysaccharidosis Type VI (MPS-VI), is an inherited disease caused by a deficiency in the ... 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 ...
MCOLN1 Mucopolysaccharidosis Ih; 607014; IDUA Mucopolysaccharidosis Ih/s; 607015; IDUA Mucopolysaccharidosis Is; 607016; IDUA ... GALNS Mucopolysaccharidosis type IIID; 252940; GNS Mucopolysaccharidosis type IX; 601492; HYAL1 Mucopolysaccharidosis VII; ...
"Mucopolysaccharidosis type VII". United States National Library of Medicine. 25 June 2019. Retrieved 2 July 2019. "A Guide to ... Sly syndrome, also called mucopolysaccharidosis type VII (MPS-VII), is an autosomal recessive lysosomal storage disease caused ... McCafferty, EH; Scott, LJ (April 2019). "Vestronidase alfa: A review in mucopolysaccharidosis VII". BioDrugs. 33 (2): 233-240. ... and biochemical features of a new mucopolysaccharidosis". J. Pediatr. 82 (2): 249-57. doi:10.1016/S0022-3476(73)80162-3. PMID ...
Mucopolysaccharidosis Hurler syndrome (MPS I) Hunter syndrome (MPS II) Morquio syndrome (MPS IV) List of neurological ... "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 ... Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare autosomal recessive lysosomal storage ...
Hers also suggested that other diseases, such as the mucopolysaccharidosis, might be due to enzyme deficiencies.[citation ... Ponder KP, Haskins ME (2007). "Gene therapy for mucopolysaccharidosis". Expert Opin Biol Ther. 7 (9): 1333-1345. doi:10.1517/ ... Mucopolysaccharidoses, including Hunter syndrome and Hurler disease (E77) Glycoprotein storage disorders (E77.0-E77.1) ... A Type B Sulfatidosis Metachromatic leukodystrophy Saposin B deficiency Multiple sulfatase deficiency Mucopolysaccharidoses ...
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 ...
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 ...
All members of the mucopolysaccharidosis family are also lysosomal storage diseases. Mucopolysaccharidosis type I (MPS I) is ... "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 ... Genetic counseling can help parents who have a family history of the mucopolysaccharidoses determine if they are carrying the ...
1994). "Mucopolysaccharidosis IV A: molecular cloning of the human N-acetylgalactosamine-6-sulfatase gene (GALNS) and analysis ... 1995). "Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients". Hum. Mol. Genet. 4 ... 1995). "Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate ... 1993). "Mucopolysaccharidosis IV A: assignment of the human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene to ...
"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 ...
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". ...
Schultheiss, P. C., Gardner, S. A., Owens, J. M., Wenger, D. A., Thrall, M. A. (2000). Mucopolysaccharidosis VII in a cat. ...
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. ...
Neufeld EF, Muenzer J (1995). "The mucopolysaccharidoses". In Scriver CR, Beaudet AL, Sly WS, Valle D (eds.). The metabolic and ...
March 2016). "Progression of Hip Dysplasia in Mucopolysaccharidosis Type I Hurler After Successful Hematopoietic Stem Cell ... notably malignant infantile osteopetrosis and mucopolysaccharidosis. DNA strand breaks accumulate in long term hematopoietic ...
A disease comprising mucopolysaccharidosis, sphingolipidosis, and more caused by a defect in posttranslational modification". ... 502 It is similar to mucopolysaccharidosis. Symptoms of this disorder commonly appear between one and two years of age. ...
"Progression of Hip Dysplasia in Mucopolysaccharidosis Type I Hurler After Successful Hematopoietic Stem Cell Transplantation". ... notably malignant infantile osteopetrosis and mucopolysaccharidosis. "hematopoietic system". Merriam-Webster. Retrieved 8 July ...
... , also known as mucopolysaccharidosis type IV (MPS IV), is a rare metabolic disorder in which the body cannot ... "Mucopolysaccharidoses Fact Sheet". National Institute of Neurological Disorders and Stroke. 13 May 2019. Retrieved 14 June 2019 ...
Mucopolysaccharidoses: The mucopolysaccharidoses are a group of inherited metabolic diseases caused by the absence or ... "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, ... Causes of congenital corneal opacities include sclerocornea, trauma, ulcer, mucopolysaccharidosis, Peter's anomaly, congenital ...
Mepsevii is indicated for the treatment of non-neurological manifestations of Mucopolysaccharidosis VII (MPS VII; Sly syndrome ... McCafferty EH, Scott LJ (April 2019). "Vestronidase Alfa: A Review in Mucopolysaccharidosis VII". BioDrugs. 33 (2): 233-240. ... of 12 participants with mucopolysaccharidosis VII. The trial was conducted at four sites in the United States. The benefit and ... to treat children and adults with an inherited metabolic condition called mucopolysaccharidosis type VII (MPS VII), also known ...
Skipperke Club, p. 2 "Mucopolysaccharidosis (MPS) IIIB". UPenn School of Veterinary Medicine. "New DNA-based Test for Inherited ...
White, K. K. (2011-12-01). "Orthopaedic aspects of mucopolysaccharidoses". Rheumatology. 50 (suppl 5): v26-v33. doi:10.1093/ ... mucopolysaccharidosis (MPS), and certain congenital syndromes, including achondroplasia. Because most children with MPS I ( ...
"Concomitant occurrence of mucopolysaccharidosis IIIB and Glanzmann's thrombasthenia. Further evidence of a hyperactive ?-N- ...
2005). "Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8". J. Med. Genet. 41 ... 2007). "Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). ... Mutations in the gene encoding this enzyme cause mucopolysaccharidosis IIIC. GRCh38: Ensembl release 89: ENSG00000165102 - ... cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)". Am J Hum Genet. 79 (5): 807-19. doi:10.1086/508294. PMC 1698556. ...
"Mucopolysaccharidosis type I". "Glycogenosis type II and Pompe's disease". Archived from the original on 23 November 2015. " ... Other causes include mucopolysaccharidosis, neurofibromatosis, multiple endocrine neoplasia type 2B, myxedema, acromegaly, ...
Galsulfase is indicated for long-term enzyme-replacement therapy in people with a confirmed diagnosis of mucopolysaccharidosis ... Brunelli MJ, Atallah ÁN, da Silva EM (September 2021). "Enzyme replacement therapy with galsulfase for mucopolysaccharidosis ... which in turn can lead to mucopolysaccharidosis VI. Used as a pharmaceutical drug, the enzyme is known under the International ... Galsulfase is used to treat adults and children who have mucopolysaccharidosis VI (MPS VI or Maroteaux-Lamy syndrome). This ...
Clin Dysmorphol Vasilev F, Sukhomyasova A, Otomo T (2020) Mucopolysaccharidosis-plus syndrome. Int J Mol Sci 21(2) Pevsner J, ... This syndrome has since been named Mucopolysaccharidosis-plus syndrome. GRCm38: Ensembl release 89: ENSMUSG00000029434 - ...
... 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 ... Lysosomal disorders like mucopolysaccharidosis are triggered when a particular enzyme exists in too small an amount or is ...
Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. Explore symptoms, inheritance, ... Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. This disorder was once divided into ... Mucopolysaccharidosis Type I. 2002 Oct 31 [updated 2021 Feb 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean ... Can mucopolysaccharidosis type I disease severity be predicted based on a patients genotype? A comprehensive review of the ...
encoded search term (Mucopolysaccharidosis) and Mucopolysaccharidosis What to Read Next on Medscape ... The first mucopolysaccharidosis type VII in a Taiwanese girl: A case report and review of the literature. J Formos Med Assoc. ... Spinal problems in mucopolysaccharidosis I (Hurler syndrome). J Bone Joint Surg Br. 1996 Nov. 78 (6):938-44. [QxMD MEDLINE Link ... Mucopolysaccharidosis type I: clinical and biochemical study. East Mediterr Health J. 2000 Mar-May. 6 (2-3):359-66. [QxMD ...
Mucopolysaccharidosis VI (MPS VI), or Maroteaux-Lamy syndrome, is an autosomal recessive lysosomal storage disorder caused by ... Mucopolysaccharidosis VI: pathophysiology, diagnosis and treatment Front Biosci (Landmark Ed). 2017 Jan 1;22(3):385-406. doi: ... Mucopolysaccharidosis VI (MPS VI), or Maroteaux-Lamy syndrome, is an autosomal recessive lysosomal storage disorder caused by ...
Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders that affect regulation of glycosaminoglycan (GAG) ... Growth impairment in mucopolysaccharidoses Mol Genet Metab. 2018 May;124(1):1-10. doi: 10.1016/j.ymgme.2018.03.004. Epub 2018 ... Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders that affect regulation of glycosaminoglycan (GAG) ...
... except for mucopolysaccharidosis type II, which is X-linked. ... Mucopolysaccharidoses (MPSs) are a group of lysosomal storage ... encoded search term (Mucopolysaccharidoses Types I-VII) and Mucopolysaccharidoses Types I-VII What to Read Next on Medscape ... Mucopolysaccharidoses Types I-VII Differential Diagnoses. Updated: May 13, 2022 * Author: Janette Baloghova, MD, PhD; Chief ... Imaging findings of mucopolysaccharidoses: a pictorial review. Insights Imaging. 2013 Aug. 4(4):443-59. [QxMD MEDLINE Link]. [ ...
Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a disorder that primarily affects the central ... Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a disorder that primarily affects the brain and ... Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations. Hum Mutat. 2010 May;31(5):E1348-60. doi: 10.1002/humu. ... Mucopolysaccharidosis type III (Sanfilippo disease) in Sweden: clinical presentation of 22 children diagnosed during a 30-year ...
Mucopolysaccharidosis Type III (Sanfilippo Syndrome): Developing Drugs for Treatment Guidance for Industry Draft Guidance for ... Mucopolysaccharidosis Type III (Sanfilippo Syndrome): Developing Drugs for Treatment Guidance for Industry ... clinical trial data quality and foster greater efficiency in development programs for drugs to treat mucopolysaccharidosis type ...
... is a disorder causing failure to thrive, facial and other skeletal abnormalities, tremors, and ... Mucopolysaccharidosis Type I. Mucopolysaccharidosis Type I is a disorder causing failure to thrive, facial and other skeletal ... Mucopolysaccharidosis Type 1 (MPSI) is a lysosomal storage disease caused by deficient activity of the alpha-L-iduronidase ... Identification and Characterization of the Molecular Lesion Causing Mucopolysaccharidosis Type I in Cats. View the article ...
Extremely low levels of β-glucuronidase confirmed the diagnosis of Sly disease (Mucopolysaccharidosis VII). This is the first ...
Find nationwide Mucopolysaccharidosis (MPS) Expert Witnesses providing testimony and expert opinion in a court of law, for ...
encoded search term (Mucopolysaccharidosis) and Mucopolysaccharidosis What to Read Next on Medscape ... The first mucopolysaccharidosis type VII in a Taiwanese girl: A case report and review of the literature. J Formos Med Assoc. ... Spinal problems in mucopolysaccharidosis I (Hurler syndrome). J Bone Joint Surg Br. 1996 Nov. 78 (6):938-44. [QxMD MEDLINE Link ... Mucopolysaccharidosis type I: clinical and biochemical study. East Mediterr Health J. 2000 Mar-May. 6 (2-3):359-66. [QxMD ...
Explore the comprehensive breakdown of the top 10 symptoms of Mucopolysaccharidosis (MPS), a group of rare, genetic metabolic ... People with mucopolysaccharidosis (MPS) often experience a peculiar anomaly: a striking change in their bone structure. This ... 1. https://www.ninds.nih.gov/health-information/disorders/mucopolysaccharidoses. 2. https://pubmed.ncbi.nlm.nih.gov/34730450/. ... 7. https://www.researchgate.net/publication/277961168_Hunter_Syndrome_Mucopolysaccharidosis_II_-_The_Signs_and_Symptoms_a_ ...
A child is presented with mucopolysaccharidosis VII (beta-glucuronidase deficiency), bringing to six the number of reported ... This childs course and data from published reports indicate that mucopolysaccharidosis VII, unlike the other known ... mucopolysaccharidoses, is clinically recognisable in the newborn period and is most likely to be associated with moderate ...
The long-term cognitive and functional outcomes of children with mucopolysaccharidosis type I (MPS-IH) post-hematopoietic cell ... Long-term cognitive and functional outcomes in children with mucopolysaccharidosis (MPS)-IH (Hurler syndrome) treated with ...
Mucopolysaccharidosis Type II. In its most severe form Hunter disease (MPS II) resembles Hurler disease, but patients do not ...
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Mucopolysaccharidosis VI (MPS VI) is a rare lysosomal disease arising from impaired function of the enzyme arylsulfatase B ( ... Skeletal phenotype amelioration in mucopolysaccharidosis VI requires intervention at the earliest stages of postnatal ... Skeletal phenotype amelioration in mucopolysaccharidosis VI requires intervention at the earliest stages of postnatal ...
encoded search term (Mucopolysaccharidosis) and Mucopolysaccharidosis What to Read Next on Medscape ... Mucopolysaccharidosis Differential Diagnoses. Updated: Feb 02, 2016 * Author: Tarek Bittar, MD; Chief Editor: Jeffrey D Thomson ... Spinal problems in mucopolysaccharidosis I (Hurler syndrome). J Bone Joint Surg Br. 1996 Nov. 78(6):938-44. [QxMD MEDLINE Link] ... Mucopolysaccharidosis type I: clinical and biochemical study. East Mediterr Health J. 2000 Mar-May. 6(2-3):359-66. [QxMD ...
Mucopolysaccharidosis Type IIIC): Read more about Symptoms, Diagnosis, Treatment, Complications, Causes and Prognosis. ... Presentation of Mucopolysaccharidosis As Very Early Onset Schizophrenia Like Illness in Psychiatry Settings. [neurologyindia. ... The physical features of MPS III are less pronounced than those of other types of mucopolysaccharidosis. [medlineplus.gov] ... Mucopolysaccharidosis III (Sanfilippo Syndrome)- disease presentation and experimental therapies. Pediatr Endocrinol Rev. 2014 ...
Literature review: mucopolysaccharidosis is an inherited metabolic disorder caused by innate errors of metabolism, which cause ... Oral manifestations vary according to the type of mucopolysaccharidosis and are of major importance. Most individuals present ... Final considerations: there are countless oral manifestations, so the professional is required to know mucopolysaccharidoses ... Objective: to perform a literature review on mucopolysaccharidosis addressing systemic characteristics associated with oral ...
encoded search term (Mucopolysaccharidosis) and Mucopolysaccharidosis What to Read Next on Medscape ... Spinal problems in mucopolysaccharidosis I (Hurler syndrome). J Bone Joint Surg Br. 1996 Nov. 78(6):938-44. [QxMD MEDLINE Link] ... Mucopolysaccharidosis type I: clinical and biochemical study. East Mediterr Health J. 2000 Mar-May. 6(2-3):359-66. [QxMD ... Spinal involvement in mucopolysaccharidoses: a review. Childs Nerv Syst. 2015 Feb. 31 (2):203-12. [QxMD MEDLINE Link]. ...
Mucopolysaccharidosis type IV (MPS IV), also known as Morquio syndrome, is a progressive condition that mainly affects the ... Mucopolysaccharidosis type IV (MPS IV), also known as Morquio syndrome, is a progressive condition that mainly affects the ... Unlike some other types of mucopolysaccharidosis, MPS IV does not affect intelligence.The life expectancy of individuals with ...
What is mucopolysaccharidosis?, Magyar Mukopoliszaccharidózis Társaság honlapja, célunk a családok összefogása és ... What is mucopolysaccharidosis?. Briefly: Mucopolysaccharidosises are a group of metabolic disorders caused by the absence or ... Lysosomal disorders like mucopolysaccharidosis are triggered when a particular enzyme exists in too small amount or it is ...
Mucopolysaccharidoses (MPSs) are a heterogenous and rare group of lysosomal storage disorders. Lysosomes are present in all ... 2.00 2.01 2.02 2.03 2.04 2.05 2.06 2.07 2.08 2.09 2.10 2.11 2.12 2.13 2.14 Ashworth, J.L., et al., Mucopolysaccharidoses and ... 1.0 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 Del Longo, A., E. Piozzi, and F. Schweizer, Ocular features in mucopolysaccharidosis: ... 21.0 21.1 21.2 21.3 21.4 Ashworth, J.L., et al., The ocular features of the mucopolysaccharidoses. Eye (Lond), 2006. 20(5): p. ...
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Mucopolysaccharidosis III (Sanfilippo Syndrome) - Disease Presentation and Experimental Therapies. Janine A. Gilkes, MS, Coy D ...
... and treatment of Mucopolysaccharidosis Type IIIA, Sanfilippo Syndrome Type A, MPS IIIA, and what to do if your dog has this ... Mucopolysaccharidosis Type IIIA, Sanfilippo Syndrome Type A, MPS IIIA. What is MPS IIIA?. A lysosome is a structure within the ... mucopolysaccharidosis iiib, sanfilippo syndrome type b, mps iiib degenerative myelopathy, dm is your dog at risk for dm? what ... Mucopolysaccharidoses (MPS) are defined by abnormal buildup of glycosaminoglycans, large sugar-protein molecules that are ...
  • Approximately 1 in 100,000 newborns will experience severe mucopolysaccharidosis type I, while approximately 1 in 500,000 newborns will experience attenuated mucopolysaccharidosis type I. Most mucopolysaccharidoses are autosomal recessive disorders, meaning that only individuals inheriting the defective gene from both parents are affected. (wikipedia.org)
  • Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. (medlineplus.gov)
  • Oxidative stress and inflammation in mucopolysaccharidosis type IVA patients treated with enzyme replacement therapy. (medscape.com)
  • Incidence and prevalence of mucopolysaccharidosis type 1 in the Irish republic. (medscape.com)
  • Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece. (medscape.com)
  • The mild form of mucopolysaccharidosis type I (Scheie syndrome) is associated with increased ascending aortic stiffness. (medscape.com)
  • Natural history of extensive Mongolian spots in mucopolysaccharidosis type II (Hunter syndrome): a survey among 52 Japanese patients. (medscape.com)
  • High prevalence of carpal tunnel syndrome in children with mucopolysaccharidosis type II (Hunter syndrome). (medscape.com)
  • Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a disorder that primarily affects the brain and spinal cord (central nervous system). (medlineplus.gov)
  • Mucopolysaccharidosis Type I is a disorder causing failure to thrive, facial and other skeletal abnormalities, tremors, and clouding of the eyes. (wisdompanel.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)
  • Identification and Characterization of the Molecular Lesion Causing Mucopolysaccharidosis Type I in Cats. (wisdompanel.com)
  • The long-term cognitive and functional outcomes of children with mucopolysaccharidosis type I (MPS-IH) post-hematopoietic cell transplant (HCT) are not well documented, and the role of genetic and treatment factors in these outcomes has yet to be defined. (healthpartners.com)
  • Mucopolysaccharidosis type I: clinical and biochemical study. (medscape.com)
  • Wraith JE, Scarpa M, Beck M, Bodamer OA, De Meirleir L, Guffon N. Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. (medscape.com)
  • Mucopolysaccharidosis type IV (MPS IV), also known as Morquio syndrome, is a progressive condition that mainly affects the skeleton. (healthviber.com)
  • Oral manifestations vary according to the type of mucopolysaccharidosis and are of major importance. (bvsalud.org)
  • Mucopolysaccharidosis VI (MPS-VI) is also known as Maroteaux-Lamy disease, and is a type of lysosomal storage disease where large sugar molecules are unable to be broken down by the body as they normally would. (orivet.com)
  • Mucopolysaccharidosis type 2 attenuated form (MPS2att) the less severe form of MPS2 (see this term) leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies short stature cardiorespiratory and skeletal findings. (globalgenes.org)
  • It is differentiated from mucopolysaccharidosis type 2 severe form (see this term) by the absence of cognitive decline. (globalgenes.org)
  • Newly diagnosed with Mucopolysaccharidosis type 2, attenuated form? (globalgenes.org)
  • Mucopolysaccharidosis type I (MPS I) is an autosomal recessive lysosomal storage disorder resulting from deficiency of the enzyme α-L-iduronidase. (medicalhomeportal.org)
  • What is Mucopolysaccharidosis type I (MPSI) and what causes it? (medicalhomeportal.org)
  • After double valve replacement, unique histologic findings prompted a genetics evaluation, ultimately leading to the diagnosis of mucopolysaccharidosis type I, a rare lysosomal storage disorder with high rates of cardiac manifestations. (onempsvoice.com)
  • Evidence of Treatment Benefits in Patients With Mucopolysaccharidosis Type I-Hurler in Long-Term Follow-Up Using a N. (onempsvoice.com)
  • Newborn screening (NBS) for mucopolysaccharidosis type I (MPS I, Hurler syndrome) is currently conducted in about two-fifths of the NBS programs in the United States and in a few other countries. (baebies.com)
  • Cohn et al reported a simple mnemonic tool that can help to screen patients for Hunter syndrome (Mucopolysaccharidosis Type II, MPS II). (medicalalgorithms.com)
  • To describe the ultrasonographically detected central corneal thickness (CCT) in patients with Type II and VI mucopolysaccharidosis (MPS) and its impact on applanation tonometry and glaucoma detection. (qxmd.com)
  • Mucopolysaccharidosis (MPS) VII (shepherd type) is an inherited Lysosomal Storage Disorder affecting dogs. (pawprintgenetics.com)
  • Genetic testing of the GUSB gene will reliably determine whether a dog is a genetic Carrier of mucopolysaccharidosis VII (shepherd type). (pawprintgenetics.com)
  • Mucopolysaccharidosis VII (shepherd type) is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. (pawprintgenetics.com)
  • Molecular diagnostic tests for ascertainment of genotype at the mucopolysaccharidosis type VII locus in dogs. (pawprintgenetics.com)
  • DESCRIPTION (provided by applicant): Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is an X-linked recessive inherited disorder caused by absence of iduronate-2-sulfatase, resulting in systemic accumulation of glycosaminoglycans heparan sulphate and dermatan sulphate. (sbir.gov)
  • We have used the beta-glucuronidase-deficient mouse model of mucopolysaccharidosis type VII (MPS VII) to develop an alternative approach to therapy. (mcmaster.ca)
  • Build newborn screening laboratory capacity to screen for new Recommended Uniform Screening Panel (RUSP) conditions: Pompe Disease, Mucopolysaccharidosis Type 1 (MPS-1), X-linked Adrenoleukodystrophy (X-ALD), and Spinal Muscular Atrophy (SMA). (cdc.gov)
  • Arizona will increase the laboratory capacity to screen for two lysosomal storage disorders, Pompe Disease and Mucopolysaccharidosis Type-1 (MPS-1). (cdc.gov)
  • These activities will enable the state to move ahead with implementing Pompe Disease and Mucopolysaccharidosis Type I (MPSI) in Texas. (cdc.gov)
  • Successful pregnancy and breastfeeding in a woman with mucopolysaccharidosis type I while receiving laronidase enzyme replacement. (unicatt.it)
  • The authors describe the first mother-infant pair to complete an on-going, prospective, open-label, Phase 4 trial (ALIU) UU3, NCT00418821) determining the safety of laronidase enzyme replacement therapy (ERT) in pregnant women with mucopolysaccharidosis type I (MPS I) and their breastfed infants. (unicatt.it)
  • Neonatal gene transfer using adenovirus vectors expressing human β-glucuronidase (AxCAhGUS) resulted in pathological improvement in multiple visceral organs of mice with mucopolysaccharidosis type VII (MPSVII). (elsevierpure.com)
  • Mucopolysaccharidosis type IIIB: a current review and exploration of the AAV therapy landscape. (bvsalud.org)
  • Mucopolysaccharidoses type IIIB is a rare genetic disorder caused by mutations in the gene that encodes for N-acetyl-alpha- glucosaminidase . (bvsalud.org)
  • Current treatment options are expensive, limited, and presently there are no approved cures for mucopolysaccharidoses type IIIB. (bvsalud.org)
  • Our group recently published an effective treatment using a codon -optimized triple mutant adeno-associated virus 8 vector that restores N-acetyl-alpha- glucosaminidase levels, auditory function, and lifespan in the murine model for mucopolysaccharidoses type IIIB to that seen in healthy mice . (bvsalud.org)
  • Here, we review the current state of the field in relation to the capsid landscape, adeno-associated virus gene therapy and its successes and challenges in the clinic, and how novel adeno-associated virus capsid designs have evolved research in the mucopolysaccharidoses type IIIB field. (bvsalud.org)
  • Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. (bvsalud.org)
  • Spinal problems in mucopolysaccharidosis I (Hurler syndrome). (medscape.com)
  • Aim: To explore the frequency with which children and young people participate in social activities with peers, when they are affected by Mucopolysaccharidosis I Hurler Disease (MPS IH) post bone marrow transplant (BMT). (hud.ac.uk)
  • Mucopolysaccharidosis VI (MPS VI), or Maroteaux-Lamy syndrome, is an autosomal recessive lysosomal storage disorder caused by deficient activity of the enzyme arylsulfatase B (ASB). (nih.gov)
  • Ocular pathology is common in patients with mucopolysaccharidosis (MPS), a hereditary lysosomal storage disorder, where the eye as well as other tissues accumulate excessive amounts of glycosaminoglycans. (umn.edu)
  • Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans (GAGs). (wikipedia.org)
  • Mucopolysaccharidosis (MPS) involves defective activity of the lysosomal enzymes that degrade mucopolysaccharides (glycosaminoglycans [GAGs] attached to a link protein with a hyaluronic acid core) into smaller components. (medscape.com)
  • Literature review: mucopolysaccharidosis is an inherited metabolic disorder caused by innate errors of metabolism, which cause the deficiency of lysosomal enzymes that degrade glycosaminoglycans and cause their accumulation within different tissues and organs. (bvsalud.org)
  • Mucopolysaccharidoses (MPS) are defined by abnormal buildup of glycosaminoglycans, large sugar-protein molecules that are important for skeletal and joint function. (embarkvet.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)
  • Project Alive exists to find and fund a cure for Hunter Syndrome (also known as Mucopolysaccharidosis or MPS II) through research and advocacy. (globalgenes.org)
  • Randomized, double-blind, placebo-controlled, parallel-group, single-center study followed by open-label phase, to evaluate the effects of adalimumab compared to placebo on the change from baseline in joint and skeletal disease in children and adults with mucopolysaccharidosis (MPS) I, II or VI. (researcherprofiles.org)
  • Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders that affect regulation of glycosaminoglycan (GAG) processing. (nih.gov)
  • Mucopolysaccharidoses (MPSs) are a heterogenous and rare group of lysosomal storage disorders. (eyewiki.org)
  • The mucopolysaccharidoses are part of the lysosomal storage disease family, a group of more than 40 genetic disorders that result when the lysosome organelle in animal cells malfunctions. (wikipedia.org)
  • Lysosomal disorders like mucopolysaccharidosis are triggered when a particular enzyme exists in too small an amount or is missing altogether. (wikipedia.org)
  • Enzyme replacement therapy (ERT) improves somatic manifestations in mucopolysaccharidoses (MPS). (ufrgs.br)
  • Presentation of mucopolysaccharidosis VII (beta-glucuronidase deficiency) in infancy. (bmj.com)
  • A child is presented with mucopolysaccharidosis VII (beta-glucuronidase deficiency), bringing to six the number of reported patients with the infantile onset form of this disorder. (bmj.com)
  • This child's course and data from published reports indicate that mucopolysaccharidosis VII, unlike the other known mucopolysaccharidoses, is clinically recognisable in the newborn period and is most likely to be associated with moderate mental deficiency which does not progress over time. (bmj.com)
  • Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). (medscape.com)
  • Hamano K, Hayashi M, Shioda K, Fukatsu R, Mizutani S. Mechanisms of neurodegeneration in mucopolysaccharidoses II and IIIB: analysis of human brain tissue. (medscape.com)
  • Another lysosomal storage disease often confused with the mucopolysaccharidoses is mucolipidosis. (wikipedia.org)
  • Persons with mucolipidosis may share some of the clinical features associated with the mucopolysaccharidoses (certain facial features, bony structure abnormalities, and damage to the brain), and increased amounts of the enzymes needed to break down the lipids are found in the blood. (wikipedia.org)
  • Unlike some other types of mucopolysaccharidosis, MPS IV does not affect intelligence.The life expectancy of individuals with MPS IV depends on the severity of symptoms. (healthviber.com)
  • Different types of mucopolysaccharidosis have slightly different symptoms but, in general, during infancy and childhood, short stature, hairiness, and abnormal development become noticeable. (msdmanuals.com)
  • Mucopolysaccharidosis VI (MPS VI) is a rare lysosomal disease arising from impaired function of the enzyme arylsulfatase B (ARSB). (jci.org)
  • The mucopolysaccharidoses share many clinical features but have varying degrees of severity. (wikipedia.org)
  • Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case series. (medscape.com)
  • Clinical experience in anesthetic management for children with mucopolysaccharidoses: Report of ten cases. (medscape.com)
  • Clinical variability among the mucopolysaccharidoses is broad. (medicalhomeportal.org)
  • Clarke LA. Idursulfase for the treatment of mucopolysaccharidosis II. (medscape.com)
  • Objective: to perform a literature review on mucopolysaccharidosis addressing systemic characteristics associated with oral features, thus allowing a proper dental treatment and a better quality of life of the patient. (bvsalud.org)
  • Malm G, Lund AM, Mansson JE, Heiberg A. Mucopolysaccharidoses in the Scandinavian countries: incidence and prevalence. (medscape.com)
  • Final considerations: there are countless oral manifestations, so the professional is required to know mucopolysaccharidoses and monitor patients from childhood to adulthood, aiming to offer prevention, oral health maintenance, and specialized and multidisciplinary care. (bvsalud.org)
  • Individuals with mucopolysaccharidosis either do not produce enough of one of the eleven enzymes required to break down these sugar chains into simpler molecules, or they produce enzymes that do not work properly. (wikipedia.org)
  • Depending on the mucopolysaccharidosis subtype, affected individuals may have normal intellect or have cognitive impairments, may experience developmental delay, or may have severe behavioral problems. (wikipedia.org)
  • Variant of iduronidase deficient mucopolysaccharidoses: further evidence for genetic heterogeneity. (bmj.com)
  • Perenc L. Anthropometric characteristics of four Polish children with mucopolysaccharidosis. (medscape.com)
  • It is estimated that 1 in 25,000 babies born in the United States will have some form of the mucopolysaccharidoses. (wikipedia.org)
  • Mucopolysaccharidosis III (Sanfilippo Syndrome)- disease presentation and experimental therapies. (symptoma.com)
  • The physical features of MPS III are less pronounced than those of other types of mucopolysaccharidosis. (medlineplus.gov)
  • There are more obvious deformities associated with MPS-VI compared to some of the other types of mucopolysaccharidoses, which should arouse suspicion in breeds that are known to be affected. (orivet.com)
  • There are many types of mucopolysaccharidosis depending on which specific enzyme is missing. (msdmanuals.com)
  • In the MPS-VI variant of mucopolysaccharidosis the critical enzyme arylsulphatase B is lacking from the body. (orivet.com)
  • High rate of postoperative mortality in patients with mucopolysaccharidosis I: findings from the MPS I Registry. (medscape.com)
  • Nakarat T, Läßig AK, Lampe C, Keilmann A. Alterations in speech and voice in patients with mucopolysaccharidoses. (medscape.com)
  • A Double-Blind Study to Evaluate the Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome). (medscape.com)
  • La base de données consacrée à l'administration des patients et à l'activité biostatistique a été interrogée pour l'ensemble des patients de moins de 15 ans qui avaient consulté à l'hôpital de campagne militaire marocain dans la Bande de Gaza entre novembre 2012 et février 2013 et les données obtenues ont été passées en revue. (who.int)
  • Les patients pédiatriques souffrant de traumatismes potentiellement fatals constituent une partie de la responsabilité première des établissements de santé militaires en temps de guerre. (who.int)
  • Presentation of Mucopolysaccharidosis As Very Early Onset Schizophrenia Like Illness in Psychiatry Settings. (symptoma.com)
  • Mucopolysaccharidosis (MPS) involves defective activity of the lysosomal enzymes, which blocks degradation of mucopolysaccharides and leads to abnormal accumulation of heparan sulfate, dermatan sulfate, and keratan sulfate. (medscape.com)
  • Mucopolysaccharidoses occur when the body lacks enzymes needed to break down and store complex sugar molecules. (msdmanuals.com)
  • In mucopolysaccharidoses, the body lacks enzymes needed to break down (metabolize) and store mucopolysaccharides. (msdmanuals.com)