Mucopolysaccharidosis Iv
Disease Details
Family Health Simplified
- Description
- Mucopolysaccharidosis IV (MPS IV), also known as Morquio syndrome, is a rare genetic disorder characterized by the body's inability to break down glycosaminoglycans, leading to skeletal abnormalities, growth deficiencies, and other systemic issues.
- Type
- Mucopolysaccharidosis IV (MPS IV) is an autosomal recessive disorder.
- Signs And Symptoms
- Patients with Morquio syndrome appear healthy at birth. Types A and B have similar presentations, but Type B generally has milder symptoms. The age of onset is usually between 1 and 3 years of age. Morquio syndrome causes progressive changes to the skeleton of the ribs and chest, which may lead to neurological complications such as nerve compression. Patients may also have hearing loss and clouded corneas. Intelligence is usually normal unless a patient has untreated hydrocephalus.Physical growth slows and often stops around age 8. Skeletal abnormalities include a bell-shaped chest, a flattening or curvature of the spine, shortened long bones, and dysplasia of the hips, knees, ankles, and wrists. The bones that stabilize the connection between the head and neck can be malformed (odontoid hypoplasia); in these cases, a surgical procedure called spinal cervical bone fusion can be lifesaving. Restricted breathing, joint stiffness, and heart disease are also common. Children with the more severe form of MPS IV may not live beyond their twenties or thirties.Some additional signs and symptoms of Morquio syndrome include a short stature, scoliosis, kyphosis, hypermobile joints, knock-knees, pectus carinatum, misshapen limbs, unstable vertebrae, cord compression, hepatomegaly, hearing problems, vision problems, and heart problems.
- Prognosis
- The lifespan of patients with Morquio syndrome is variable and depends on the subtype. Type A is generally severe, with a life expectancy in the 20s to 30s. In 2016, a man with Morquio syndrome died at the age of 81.One study found that the mean life expectancy for patients in the United Kingdom was 25.30, with a standard deviation of 17.43 years. On average, female patients lived 4 years longer than male patients. Respiratory failure was the primary cause of death in 63% of patients. Other causes of death were cardiac failure (11%), post-traumatic organ failure (11%), complications of surgery (11%), and heart attack (4%). Life expectancy has been increasing since the 1980s. The average age at death due to respiratory failure improved from 17.42 years old in the 1980s to 30.74 years old in the 2000s.
- Onset
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Onset of Mucopolysaccharidosis IV (MPS IV, also known as Morquio syndrome) typically occurs in early childhood, between the ages of 1 and 3 years.
Nan is not applicable in this context. - Prevalence
- Mucopolysaccharidosis IV (MPS IV), also known as Morquio syndrome, has a prevalence estimated to be between 1 in 200,000 to 1 in 300,000 live births. The nan measurement is not applicable to the prevalence statistic for this condition.
- Epidemiology
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Mucopolysaccharidosis type IV (MPS IV), also known as Morquio syndrome, has an estimated incidence rate of about 1 in 200,000 to 300,000 live births. This rate can vary by population and geographic region. There are two subtypes, MPS IV A and B, with MPS IV A being more common.
If you meant to inquire about “nan” in a different context or as an abbreviation, please provide clarification. - Intractability
- Mucopolysaccharidosis IV (MPS IV), also known as Morquio syndrome, is typically considered an intractable or challenging to treat condition. It is a rare, inherited metabolic disorder characterized by the body's inability to break down glycosaminoglycans due to a deficiency in specific lysosomal enzymes. Current treatments focus on managing symptoms and may include enzyme replacement therapy, surgical interventions, and supportive care. However, there is no cure, making MPS IV a chronic and progressive condition.
- Disease Severity
- Mucopolysaccharidosis IV (MPS IV), also known as Morquio syndrome, varies in severity, ranging from mild to severe. The disease primarily affects the skeletal system, causing bone abnormalities, short stature, and joint problems. In severe cases, it can also lead to cardiovascular and respiratory complications, impacting longevity and quality of life.
- Healthcare Professionals
- Disease Ontology ID - DOID:12804
- Pathophysiology
- Mucopolysaccharidosis IV (MPS IV), also known as Morquio syndrome, is a lysosomal storage disorder. It is caused by a deficiency in one of two enzymes: N-acetylgalactosamine-6-sulfatase (GALNS) or beta-galactosidase (GLB1). These enzymes are critical for the degradation of glycosaminoglycans (GAGs), specifically keratan sulfate and chondroitin-6-sulfate. The deficiency leads to the accumulation of these GAGs in various tissues, which disrupts normal cellular function and causes the clinical symptoms associated with the disease. Accumulation occurs predominantly in bones, cartilage, and connective tissue, causing skeletal abnormalities, joint issues, and other systemic complications. The disease has a progressive nature, with symptoms worsening over time.
- Carrier Status
- Mucopolysaccharidosis IV (MPS IV), also known as Morquio syndrome, is an autosomal recessive lysosomal storage disorder. Carrier status for MPS IV means that an individual carries one copy of the mutated gene but does not typically show symptoms of the disease. Carriers can pass the mutated gene to their offspring. If both parents are carriers, there is a 25% chance with each pregnancy that the child will inherit both mutated copies of the gene and be affected by MPS IV. Genetic testing can determine carrier status.
- Mechanism
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Mucopolysaccharidosis IV (MPS IV), also known as Morquio syndrome, is a lysosomal storage disorder characterized by the inability to degrade glycosaminoglycans (GAGs), specifically keratan sulfate and chondroitin-6-sulfate. This results from deficiencies in specific enzymes due to genetic mutations.
**Mechanism:**
MPS IV is subdivided into two types based on the specific enzyme deficiency:
- **MPS IVA (Morquio A Syndrome):** Caused by a deficiency of the enzyme N-acetylgalactosamine-6-sulfatase (GALNS).
- **MPS IVB (Morquio B Syndrome):** Caused by a deficiency of the enzyme beta-galactosidase (GLB1).
**Molecular Mechanisms:**
1. **Gene Mutations:**
- **MPS IVA:** Mutations in the GALNS gene (located on chromosome 16q24.3) lead to the production of a defective GALNS enzyme. This enzyme is responsible for breaking down keratan sulfate and chondroitin-6-sulfate.
- **MPS IVB:** Mutations in the GLB1 gene (located on chromosome 3p21.33) affect the production of the beta-galactosidase enzyme, which is necessary for the degradation of keratan sulfate.
2. **Enzyme Deficiency:**
- The mutated forms of GALNS or GLB1 enzymes are either synthesized in insufficient quantities or have reduced activity. This impairs the normal degradation process of GAGs within lysosomes, leading to their accumulation in various tissues, including cartilage, bone, and connective tissues.
3. **Cellular Impact:**
- The accumulation of undegraded GAGs disrupts cellular function and contributes to the progressive multi-systemic manifestations of the disease. This includes skeletal abnormalities, joint issues, vision and hearing loss, and cardiovascular complications.
In summary, the molecular mechanisms of MPS IV involve genetic mutations leading to enzyme deficiencies that prevent the breakdown of specific GAGs, resulting in their pathological accumulation and widespread tissue and organ dysfunction. - Treatment
- The treatment for Morquio syndrome consists of prenatal identification and of enzyme replacement therapy. On 12 February 2014, the US Food and Drug Administration approved the drug elosulfase alfa (Vimizim) for treating Type A. Currently, there is no treatment for Type B.
- Compassionate Use Treatment
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Mucopolysaccharidosis type IV (MPS IV), also known as Morquio syndrome, has very limited treatment options focused primarily on managing symptoms and improving quality of life. Here are some areas related to compassionate use, off-label, and experimental treatments:
1. **Compassionate Use Treatment**: This refers to providing access to therapies that are still under investigation or not yet approved for a particular use. For MPS IV, enzyme replacement therapy (ERT) with elosulfase alfa (Vimizim) is available, primarily for MPS IV-A. In rare situations, compassionate use may allow patients to access investigational therapies that are not yet broadly available, often requiring special approval from regulatory authorities.
2. **Off-Label Treatments**: There are currently no widely recognized off-label treatments that are specifically aimed at treating the underlying cause of MPS IV. However, various supportive therapies may be used off-label to manage symptoms, such as bisphosphonates for bone disease, or anti-inflammatory medications for joint pain.
3. **Experimental Treatments**: Ongoing research into gene therapy, substrate reduction therapy, and novel enzyme replacement therapies is promising. Clinical trials are exploring these experimental treatments. Patients may be eligible to participate in clinical trials aimed at discovering new therapeutic options for MPS IV.
Patients and caregivers considering these options should consult with a healthcare professional knowledgeable about MPS IV to understand potential risks, benefits, and eligibility criteria. - Lifestyle Recommendations
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For individuals with Mucopolysaccharidosis IV (MPS IV), also known as Morquio syndrome, lifestyle recommendations typically focus on managing symptoms and maintaining quality of life:
1. **Regular Medical Follow-Up:**
- Regular visits with a team of specialists, including geneticists, orthopedic surgeons, cardiologists, pulmonologists, and physical therapists, are essential.
2. **Physical Therapy:**
- Engage in regular physical therapy to maintain joint mobility, muscle strength, and overall physical function.
3. **Activity Modification:**
- Adapt activities to avoid high-impact sports or exercises that put undue stress on the joints.
4. **Assistive Devices:**
- Utilize mobility aids such as braces, walkers, or wheelchairs as needed to support movement and reduce the risk of falls.
5. **Respiratory Care:**
- Monitor and manage respiratory health, focusing on breathing exercises and using respiratory aids if necessary.
6. **Nutritional Support:**
- Maintain a balanced diet to support overall health and growth, and consult with a nutritionist if needed.
7. **Cardiac Monitoring:**
- Regular cardiac evaluations to monitor and manage heart health, as MPS IV can affect cardiac function.
These measures can optimize daily functioning and help manage the symptoms associated with MPS IV. - Medication
- Mucopolysaccharidosis IV (MPS IV), also known as Morquio syndrome, currently has no cure. However, treatment options focus on managing symptoms and improving quality of life. One specific medication is enzyme replacement therapy (ERT) with elosulfase alfa (brand name Vimizim). This medication is designed to replace the deficient enzyme in individuals with MPS IV, helping to reduce the storage of glycosaminoglycans (GAGs) and improve some symptoms. Other supportive treatments may include physical therapy, surgical interventions, and routine monitoring for complications.
- Repurposable Drugs
- Mucopolysaccharidosis IV (also known as Morquio syndrome) is a rare lysosomal storage disorder. Currently, there is limited information available on repurposable drugs specifically for Mucopolysaccharidosis IV. Existing treatments primarily focus on enzyme replacement therapy (ERT) with elosulfase alfa (for MPS IVA) to manage symptoms. Research is ongoing to identify new therapeutic approaches and repurposable drugs.
- Metabolites
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Mucopolysaccharidosis IV (MPS IV), also known as Morquio syndrome, is characterized by the accumulation of specific types of glycosaminoglycans (GAGs) due to enzyme deficiencies. The primary metabolites that accumulate in MPS IV are:
1. **Keratan sulfate**
2. **Chondroitin-6-sulfate**
These accumulations occur because of deficiencies in the enzymes N-acetylgalactosamine-6-sulfatase (GALNS) for MPS IV A, or Beta-galactosidase (GLB1) for MPS IV B, leading to the storage of these GAGs within various tissues and organs. - Nutraceuticals
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There is no established evidence that nutraceuticals have a significant impact on the treatment of Mucopolysaccharidosis Type IV (Morquio syndrome). Nutraceuticals typically refer to food-derived products with potential health benefits. While a balanced diet and specific supplements may support overall health, they do not address the underlying enzyme deficiency in MPS IV.
Research on nanotechnology applications in MPS IV is still in early stages. Nanotechnology could potentially offer innovative drug delivery systems or assist in gene therapy, but its clinical use remains experimental at this time. - Peptides
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Mucopolysaccharidosis IV (MPS IV), also known as Morquio syndrome, does not typically involve a direct relationship with peptides or nanoparticles in its standard medical definition or treatment. MPS IV is specifically caused by the deficiency of enzymes (either N-acetylgalactosamine-6-sulfatase or beta-galactosidase) needed to break down glycosaminoglycans. This results in the accumulation of these substances in various tissues, leading to the symptoms associated with the disease.
While research into advanced therapeutic options such as enzyme replacement therapy and gene therapy is ongoing, current standard treatments do not prominently include the use of peptides or nanoparticles. However, cutting-edge research may explore these avenues for potential future interventions.