Mucopolysaccharidosis IIIa (MPS3a) – Dachshund
Kodas: H418
Short description
Mucopolysaccharidosis (MPS) is a class of metabolic disorders that typically cause severe neurological problems and other developmental issues.
General information
Mucopolysaccharidosis (MPS) is a class of metabolic disorders that typically cause severe neurological problems and other developmental issues. This variant of the disease, known as Mucopolysaccharidosis Type IIIA (MPS IIIA), or as Sanfilippo Syndrome, is found in the Dachshund. The variant is caused by a recessive mutation to the gene SGSH (sometimes called HSS). A closely related variant is also found in the New Zealand Huntaway Dog.
Specifications
| Breeds | |
|---|---|
| Gene | SGSH |
| Chromosome | 9 |
| Mutation | c.737_739delCCA |
| Organ | Skeletal system |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | MPS IIIA |
Clinical features
Affected dogs present at adulthood with slowly progressing spinocerebellar ataxia; a gradual loss of coordination, mainly in the limbs and head. Veterinary analysis can confirm the diagnosis with the presence of heparan sulfate in the urine.
References
Pubmed ID: 10950929
Year published: 2000
Omia ID: 1309
Omia variant ID:
Turnaround information
- 10 working days