![Sample our Bioscience journals, sign in here to start your access, Latest two full volumes FREE to you for 14 days]({"type":"image" , "src" : "/sda/5925/TOC-Subject-Sample-2021-Bioscience.jpg"})
Abstract
Extract
A single case of the inherited lysosomal storage disease known as mucopolysaccharidosis-IIIA (MPS-IIIA), due to a deficiency of the enzyme heparan sulphatase, was reported in an 18-month-old male Huntaway dog (Jolly et al Citation2000). He had developed normally but when presented with a history of progressive ataxia over the preceding month, had a high stepping, prancing gait and difficulty in jumping into a utility vehicle. In addition, he had started to defaecate in his kennel. Following diagnosis of the enzyme deficiency, the mutant heparan sulphatase gene was sequenced and a PCR/restriction enzyme diagnostic test developed, based on the mutation. This is capable of detecting both homozygous and heterozygous individuals (Yogalingam et al Citation2000).