Test Detail
Mucopolysaccharidosis type IIIA (MPS IIIA / Sanfilippo A)
Metabólico · Dog
Lysosomal disease due to a defect of heparan-N-sulfatase (SGSH), with accumulation of heparan sulfate and predominantly neurological involvement. It produces progressive degeneration of the CNS with cognitive and motor deterioration in young animals, with visceral and skeletal signs less marked than in other MPS. It is the canine form of the human Sanfilippo A syndrome and has been used in intrathecal gene therapy trials.
Incidence
The New Zealand Huntaway (and related 'heading dog' working dogs) and the wire-haired dachshund are the breeds in which MPS IIIA has been described. Carrier frequency in the breeding population is not reliably published (limited data).
Breeder management
- Genotype breeding animals before mating
- Do not mate two carriers: 25% risk of affected homozygotes
- A carrier may be mated to a clear animal; offspring intended for breeding must be tested
- Exclude affected homozygous animals from breeding
- After a confirmed case, do not repeat the parental mating and communicate the status to the buyer
- Do not mate two carriers: 25% risk of affected homozygotes
- A carrier may be mated to a clear animal; offspring intended for breeding must be tested
- Exclude affected homozygous animals from breeding
- After a confirmed case, do not repeat the parental mating and communicate the status to the buyer
Specialist notes
Differential diagnosis with other MPS (especially IIIB and VII), with other degenerative encephalopathies of the young dog and with toxicants. Enzyme determination in leukocytes/tissue and molecular study confirm the diagnosis. The predominantly neurological involvement with relative somatic preservation is suggestive of MPS III.
References
1. Fischer A et al. (1998) Sulfamidase deficiency in a family of Dachshunds: a canine model of mucopolysaccharidosis IIIA (Sanfilippo A). Pediatr Res 44:74-82. PMID: 9667374
2. Aronovich EL et al. (2000) Canine heparan sulfate sulfamidase and the molecular pathology underlying Sanfilippo syndrome type A in Dachshunds. Genomics 68:80-84. PMID: 10950929
3. Yogalingam G et al. (2002) Identification of a mutation causing mucopolysaccharidosis type IIIA in New Zealand Huntaway dogs. Genomics 79:150-153. PMID: 11829484
4. Smith F et al. (2025) Survey of functional Mendelian variants in New Zealand Huntaway and Heading dog breeds. Anim Genet. PMID: 40965331
5. OMIA:001309-9615 — Mucopolysaccharidosis IIIA in Canis lupus familiaris.
2. Aronovich EL et al. (2000) Canine heparan sulfate sulfamidase and the molecular pathology underlying Sanfilippo syndrome type A in Dachshunds. Genomics 68:80-84. PMID: 10950929
3. Yogalingam G et al. (2002) Identification of a mutation causing mucopolysaccharidosis type IIIA in New Zealand Huntaway dogs. Genomics 79:150-153. PMID: 11829484
4. Smith F et al. (2025) Survey of functional Mendelian variants in New Zealand Huntaway and Heading dog breeds. Anim Genet. PMID: 40965331
5. OMIA:001309-9615 — Mucopolysaccharidosis IIIA in Canis lupus familiaris.