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Mucopolysaccharidosis (MPS) is a class of metabolic disorders that typically cause severe neurological problems and other developmental issues.
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Specifiche
| Razza | |
|---|---|
| Gene | |
| Organo | |
| Campione | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Tipo di Ereditarietà | Autosomal Recessive |
| Cromosoma | 3 |
| Tipo di Ereditarietà | MPS I |
| Anno di pubblicazione |
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 Plott Hound. Related variants also occur in the Boston Terrier and Golden Retriever.
Caratteristiche cliniche
Affected puppies present with severely stunted growth, cloudy eyes, loss of vision and progressive lameness. Other symptoms can include joint disease and a long, protruding tongue.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 1339393
Omia ID: 664