Mucopolysaccharidosis

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Mucopolysaccharidosis
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Skeletal abnormalities, joint stiffness, hepatosplenomegaly, cardiac abnormalities, vision problems, hearing loss
Complications	N/A
Onset	Childhood
Duration	Lifelong
Types	MPS I, MPS II, MPS III, MPS IV, MPS VI, MPS VII, MPS IX
Causes	Genetic mutation
Risks	Family history
Diagnosis	Genetic testing, urine test for glycosaminoglycans
Differential diagnosis	Other lysosomal storage disorders
Prevention	None
Treatment	Enzyme replacement therapy, hematopoietic stem cell transplantation, symptomatic treatment
Medication	N/A
Prognosis	Varies by type
Frequency	1 in 25,000 births
Deaths	N/A

Child with MPS Disorder

Corneal Clouding in MPS VI (Maroteaux-Lamy Syndrome)

Mucopolysaccharidosis

Mucopolysaccharidosis (MPS) is a group of metabolic disorders caused by the absence or malfunctioning of certain enzymes needed to break down molecules called glycosaminoglycans - long chains of sugar carbohydrates in each of our cells that help build bone, cartilage, tendons, corneas, skin and connective tissue.

Types

There are several types of MPS, including:

• Mucopolysaccharidosis type I (MPS I)
• Mucopolysaccharidosis type II (MPS II)
• Mucopolysaccharidosis type III (MPS III)
• Mucopolysaccharidosis type IV (MPS IV)
• Mucopolysaccharidosis type VI (MPS VI)
• Mucopolysaccharidosis type VII (MPS VII)

Each type is caused by a deficiency in one of the enzymes needed to break down the glycosaminoglycans.

Symptoms

Symptoms of MPS may include:

• Abnormal bone size or shape and other skeletal irregularities
• Vision and hearing problems
• Heart and lung problems
• Hernia
• Hydrocephalus
• Mental retardation

Diagnosis

Diagnosis of MPS is based on clinical examination, identification of characteristic symptoms, and specialized laboratory tests, including genetic testing.

Treatment

Treatment of MPS is directed toward the specific symptoms that are apparent in each individual and may include enzyme replacement therapy (ERT), bone marrow transplant, and/or gene therapy.

See also

• Lysosomal storage disease
• Metabolic disorder
• Genetic disorder

References

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External links

• Mayo Clinic: Mucopolysaccharidosis
• National Organization for Rare Disorders: Mucopolysaccharidoses

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