Mucopolysaccharidosis type I

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Mucopolysaccharidosis type I
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Synonyms	Hurler syndrome, Scheie syndrome, Hurler-Scheie syndrome
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Specialty	Medical genetics
Symptoms	Developmental delay, hepatosplenomegaly, corneal clouding, joint stiffness, hearing loss
Complications	N/A
Onset	Infancy or early childhood
Duration	Lifelong
Types	N/A
Causes	Genetic mutation in the IDUA gene
Risks	Family history
Diagnosis	Enzyme assay, genetic testing
Differential diagnosis	Other mucopolysaccharidoses, Hunter syndrome
Prevention	None
Treatment	Enzyme replacement therapy, hematopoietic stem cell transplantation
Medication	Laronidase
Prognosis	Variable, depends on severity
Frequency	1 in 100,000 births
Deaths	Varies, often in childhood without treatment

Autosomal recessive inheritance pattern

Illustration from scientific article

Mucopolysaccharidosis type I (MPS I) is a rare genetic disorder characterized by the body's inability to properly break down certain types of complex carbohydrates known as mucopolysaccharides. This condition is part of a larger group of metabolic disorders known as lysosomal storage diseases.

Symptoms

The symptoms of MPS I can vary widely in severity and onset. In severe cases, symptoms may appear in infancy and include growth retardation, hearing loss, heart disease, respiratory problems, and mental retardation. In milder cases, symptoms may not appear until later in childhood or even adulthood, and may include joint stiffness, carpal tunnel syndrome, and heart valve disease.

Causes

MPS I is caused by mutations in the IDUA gene, which provides instructions for producing an enzyme that helps break down mucopolysaccharides. When this enzyme is deficient or absent, mucopolysaccharides accumulate in the body's cells, causing the various symptoms of MPS I.

Diagnosis

Diagnosis of MPS I typically involves a combination of physical examination, medical history, and laboratory tests. These tests may include enzyme activity testing, genetic testing, and imaging studies.

Treatment

There is currently no cure for MPS I, but treatment options are available to help manage symptoms and improve quality of life. These may include enzyme replacement therapy, bone marrow transplant, and surgery to address specific symptoms.

See also

• Mucopolysaccharidosis
• Lysosomal storage disease
• Genetic disorder

References

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