Mucopolysaccharidosis Type VI (L467P) - SEVERE FORM Overview
Mucopolysaccharidosis Type VI (L467P) - SEVERE FORM
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Description: Only the MPS VI L476P (c.1427 T > C) variant in ARSB causes severe disease in cats.
Category: Haemolymphatic (Associated with the Circulatory System)
Gene: ARSB (severe form)
Variant Detected: Base Substitution T>C
Severity: Scale 4 has a high degree of severity. It generally causes a decreased quality of life and may also decrease the life expectancy.
Mode of Inheritance: Autosomal Recessive
Test Overview: Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome, is a progressive condition that causes many tissues and organs to enlarge and become inflamed or scarred. Skeletal abnormalities are also common in this condition. The rate at which symptoms worsen varies among affected individuals. The life expectancy of individuals with MPS VI depends on the severity of symptoms. Without treatment, severely affected individuals may survive only until late childhood or adolescence. Those with milder forms of the disorder usually live into adulthood, although their life expectancy may be reduced. Heart disease and airway obstruction are major causes of death in people with MPS VI.
Associated Breed(s): Domestic Short Hair, Domestic Medium / Long Hair,