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Mucopolysaccharidosis (MPS) is a class of metabolic disorders that typically cause severe neurological problems and other developmental issues.
Working days 10
Specifiche
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Informazioni generali
Mucopolysaccharidosis (MPS) is a class of metabolic disorders that typically cause severe neurological problems and other developmental issues. This variant of the disease, known as Mucopolysaccharidosis Type I (MPS I) or Hurler Syndrome, is caused by a recessive mutation to the gene IDUA. The specific mutation analysed in this test is found in the Boston Terrier. Related variants also occur in the Plott Hound and Golden Retriever.
Caratteristiche cliniche
Affected dogs present between the ages of 4 and 6 months with ataxia (loss of coordination) and lethargy. Further symptoms can include an unusual head shape, with a broad and dome-shaped skull with wide-set eyes. The disease is progressive, and euthanasia is likely required because of poor quality of life.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 32300136
Omia ID: 664