Mucopolysaccharidosis Type I

General description

Mucopolysaccharidosis type I (MPS I) is a very rare lysosomal storage disorder. Due to a genetic defect, an enzyme (alpha-L-iduronidase) is missing (inheritance pattern mps/mps) from the cell’s metabolism, or only half (N/mps) of the enzyme is produced. As a result, certain substances (mucopolysaccharides) cannot be broken down properly, causing them to accumulate in the cells’ lysosomes. This is the cause of various clinical symptoms of mucopolysaccharidosis type I. Affected cats often have flat, broad faces and a large head with small ears. In addition, incomplete dislocation (subluxation) of the hip joints, an abnormal gait, and corneal opacity may occur. In some cats, a heart valve may also thicken, which can lead to leakage (mitral valve insufficiency).

Breeds

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