Panel I: Mucopolysaccharidoses enzymes

Related Terms:

Type: Metabolic

Sample Types: Serum (plus control serum from normal same-species animal) or Blood smear

Typically 6-16 weeks of age.

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Sample Processing

Cost: $175.00

Species and Breeds
Canine - Any
Feline - Any

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This test requires 1 ml of serum. If possible, please send a control serum from a same species animal. Panel I tests for alpha-L- iduronidase (mucopolysaccharidosis type I), arylsulfatase B (MPS VI), beta-glucuronidase (MPS VII), and hexosaminidase A (marker for MPS disorders. These are enzyme assays and thus not species or breed specific. The results can also indicate if patient has mucolipidosis type II/III. Enzyme assays for MPS IIIA and IIIB can be performed upon request.

Corneal clouding, facial dysmorphia, and skeletal dysplasia is common to most forms. Umbilical hernia, prognathism inferior, hip dysplasia, increased joint laxity and synovial fluid in limb joints can be seen. Thickening of the heart valves and bulging of the proximal aorta (mainly MPS I) can lead to heart murmurs. Hepato- and splenomegaly is seen on ultrasound. portosystemic shunting or microvascular dysplasia may be present. MPS IIIA and B: Later age of onset; mostly neurological signs.

Depending on the type of MPS, life expectancy is shortened to 6 months to 3 years after diagnosis.

All MPS disorders are inherited as an autosomal recessive trait with the exception of MPS II, which is an X-linked disorder.