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(E76.0) Mucopolysaccharidosis, type i
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53 490 in individuals diagnosis mucopolysaccharidosis, type i confirmed
3 431 deaths with diagnosis mucopolysaccharidosis, type i
6% mortality rate associated with the disease mucopolysaccharidosis, type i
Diagnosis mucopolysaccharidosis, type i is diagnosed Men are 67.58% more likely than Women
44 819
Men receive the diagnosis mucopolysaccharidosis, type i
1 962 (4.4 %)Died from this diagnosis.
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8 671
Women receive the diagnosis mucopolysaccharidosis, type i
1 469 (16.9 %)Died from this diagnosis.
Risk Group for the Disease mucopolysaccharidosis, type i - Men aged 15-19 and Women aged 10-14
In Men diagnosis is most often set at age 0-34, 45-49, 60-64
Less common in men the disease occurs at Age 35-44, 50-59, 65-95+Less common in women the disease occurs at Age 0-1, 20-34, 40-49, 55-79, 85-95+
In Women diagnosis is most often set at age 0-19, 35-39, 50-54, 80-84
Disease Features mucopolysaccharidosis, type i
Absence or low individual and public risk
Mucopolysaccharidosis, type i - what does this mean
Mucopolysaccharidosis, type i (mps i) is a genetic disorder caused by a deficiency of the lysosomal enzyme alpha-l-iduronidase. this enzyme is responsible for breaking down certain carbohydrates, and when it is deficient, these carbohydrates accumulate in cells and tissues throughout the body, causing a wide range of physical and mental disabilities.
What happens during the disease - mucopolysaccharidosis, type i
Mucopolysaccharidosis type i (mps i) is a lysosomal storage disorder caused by a deficiency of the enzyme alpha-l-iduronidase. this enzyme is responsible for breaking down glycosaminoglycans, or gags, which are long chains of sugar molecules. when the enzyme is not present, gags accumulate in the lysosomes of cells, leading to tissue and organ damage throughout the body. this can cause a wide range of symptoms, including skeletal abnormalities, respiratory problems, hearing loss, and developmental delays.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Physical exam to assess developmental milestones, joint mobility, and organ system involvement
- Blood tests to measure enzyme activity of alpha-L-iduronidase
- Urine tests to measure glycosaminoglycan levels
- Imaging tests such as X-ray, CT scan, MRI, or ultrasound to detect skeletal abnormalities
- Genetic testing to detect alpha-L-iduronidase gene mutations
- Prenatal testing for pregnant women at risk of having a child with Mucopolysaccharidosis, type I
Treatment and Medical Assistance
Main goal of the treatment: To reduce the severity of symptoms and improve quality of life
- Enzyme replacement therapy (ERT)
- Bone marrow transplantation (BMT)
- Physical therapy
- Occupational therapy
- Speech therapy
- Nutritional support
- Medication to help manage pain and other symptoms
- Counseling for emotional support
9 Days of Hospitalization Required
303 Hours Required for Outpatient Treatment
Mucopolysaccharidosis, type i - Prevention
Mucopolysaccharidosis, type i can be prevented through screening and genetic counseling for couples with a family history of the disease. carrier testing is available for those with a family history of the condition, and prenatal testing is available for pregnant women who are carriers. genetic counseling can help couples understand the risks and make informed decisions about reproduction.