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Mucopolysaccharidosis (MPS VI) belongs to a group of lysosomal storage disorders in which various lysosomal enzymes are deficient and is also known as Maroteaux-Lamy syndrome.
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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 VI) belongs to a group of lysosomal storage disorders in which various lysosomal enzymes are deficient and is also known as Maroteaux-Lamy syndrome.
Caratteristiche cliniche
The disease is characterised by growth retardation, coarse facial features, skeletal deformities, and organ and soft tissue involvement.
Informazioni aggiuntive
Esistono tre tipi di mucopolisaccassidosi nei gatti: MPS I, MPS VI e MPS VII.
Riferimenti
Pubmed ID: 8910299
Omia ID: 666
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