Mucopolysaccharidoses (MPSs) are inherited lysosomal storage diseases in which a missing enzyme prevents the breakdown of glycosaminoglycans (GAGs). The undegraded GAGs accumulate and cause facial, skeletal, corneal and neurologic disease. They are rare, but they appear on exams as the "young Siamese kitten with a flat face and cloudy corneas".
Key facts
Mucopolysaccharidoses (mpss) at a glance- Species and system: cat; multisystemic inherited metabolic disease.
- Types in cats: MPS I (alpha-L-iduronidase), MPS VI (arylsulfatase B) and MPS VII (beta-glucuronidase).
- Breed: MPS VI is described in Siamese cats; MPS I and VII have been reported in domestic shorthairs (Haskins 2007; Wang 2015).
- Inheritance: autosomal recessive.
- Classic presentation: small, stunted kitten with a flat face, corneal clouding and skeletal deformity.
- Treatment: no routine cure; supportive care. Not zoonotic.
What's inside
12 sections in the full guide- Key facts
- How the NAVLE tests this
- Cause and pathophysiology
- Clinical signs
- Diagnosis
- Other feline storage diseases (MSD)
- Differential diagnoses
- Treatment and management
- Prevention and prognosis
- Quick review
- Test yourself
- References
The full guide also has 5 tables, 3 self-test questions and 5 references, available to NAVLE members.
Read the full study guide
The full guide is part of every NAVLE plan, with diagnosis and treatment tables, figures, a quick review and self-test questions. Start a free trial to try the question bank, or log in if you are already a member.