Mucopolysaccharidosis type IIIa (MPS3a)

LABOKLIN Service ID: 8306

Mucopolysaccharidosis type IIIa belongs to a group of storage diseases, which are caused by an impaired degradation of the glycosaminoglycan heparan sulfate. The excessive accumulation of this molecule in the lysosomes is caused by the genetic deficiency of the enzyme heparan sulfate sulfamidase. Affected animals suffer from severe degeneration of the central nervous system. Symptoms starts around 18 months of age and characterised by neurologic deterioration including ataxia and often lead to death of the affected dogs.

Method	sequencing
Breed list	Dachshund (Dackel), New Zealand Huntaway, Wire-Haired Dachshund
Heredity	autosomal recessive
Duration	1 - 2 weeks after arrival of the sample in the lab