Mucopolysaccharidose de type IIIa (MPS3a)

(Newzealand Huntaway, Wirehaired Dachshound)plus
Disease
autosomal recessive
Heredity
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 leads to severe degeneration of the central nervous system. Symptoms starts around 18 months of age and characterised by neurologic deterioration including ataxia.
Test duration
sequencing
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