Mucopolysaccharidosis type IIIa (MPS3a)

Mucopolysaccharidosis type IIIa belongs to a group of storage diseases, which are caused by an... more
Заболевание
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.
Порода
новозеландская овчарка, такса жесткошерстная
Тип наследования
autosomal recessive
Длительность теста
1-2 weeks after arrival of the sample in the lab
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