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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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Spesifikasjoner
| Breeds | |
|---|---|
| Organ | |
| Gene | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Automatisk resessiv |
| Chromosome | 9 |
| Also known as | MPS IIIB, MPS3B, MPS 3B and MPSIIIB |
| Mutation | c.2110_2111ins[A(40_70);2100_2110] |
Generell informasjon
Mucopolysaccharidosis (MPS) is a class of metabolic disorders that typically cause severe neurological problems and other developmental issues. This test analyses a variant of Mucopolysaccharidosis type IIIB (also called MPS3B or Sanfilippo Syndrome type B) found in the Schipperke. This variant is caused by a recessive defect to the gene NAGLU.
Kliniske egenskaper
Onset of MPS IIIB typically starts around two years of age. Symptoms include ataxia (a lack of coordination) with dysmetria (an inability to judge distances while walking or otherwise moving), a wide stance and minor degeneration of the retinas. Symptoms gradually progress in severity, often leading to euthanasia being required before six years of age.
Tilleggsinformasjon
Referanser
Pubmed ID: 32081995
Year published: 2020
Omia ID: 1342
Omia variant ID: 956