Mucopolysaccharidosis Type VII
Mucopolysaccharidosis Type VII (E351K)
General description
Mucopolysaccharidosis type VII (MPS7) is a very rare lysosomal storage disease that is inherited by cats of all breeds, among others. Due to a genetic defect, an enzyme (GUSB) is missing (inheritance pattern mps/mps) from the cell’s metabolism, or only half (N/mps) of the enzyme is produced. As a result, certain substances (mucopolysaccharides) cannot be broken down properly, causing them to accumulate in the cells’ lysosomes. This is the cause of various clinical symptoms of mucopolysaccharidosis type 7. These include abnormalities in bone and cartilage development, corneal clouding, and enlargement of the abdominal organs. Symptoms begin in the first few months of life and progressively worsen.
Breeds
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Order details
| Test Number | Included only in LABOGeneticsXXL – Cat |
| Abbreviation | Muco |
Test specifications
| Inheritance | autosomal-recessive |
| Gen | GUSB |
| Mutation | G-A |
| References | OMIA:000667-9685 |
Mucopolysaccharidosis Type VII (R476delins)
General description
Mucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease that is inherited by cats of all breeds, among others. Due to a genetic defect, an enzyme (GUSB) is missing (inheritance pattern mps/mps) from the cell’s metabolism, or only half (N/mps) of the enzyme is produced. As a result, certain substances (mucopolysaccharides) cannot be broken down properly, causing them to accumulate in the cells’ lysosomes. This is the cause of various clinical symptoms of mucopolysaccharidosis type VII. These include abnormalities in bone and cartilage development, progressive paralysis, and corneal clouding. Symptoms begin in the first few months of life and progressively worsen.
Breeds
–
Order details
| Test Number | Included only in LABOGeneticsXXL – Cat |
| Abbreviation | Muco |
Test specifications
| Inheritance | autosomal-recessive |
| Gen | GUSB |
| Mutation | C-T |
| References | OMIA:000667-9685 |
Mucopolysaccharidosis Type VII (S475delins)
General description
Mucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease that is inherited by cats of all breeds, among others. Due to a genetic defect, an enzyme (GUSB) is missing (inheritance pattern mps/mps) from the cell’s metabolism, or only half (N/mps) of the enzyme is produced. As a result, certain substances (mucopolysaccharides) cannot be broken down properly, causing them to accumulate in the cells’ lysosomes. This is the cause of various clinical symptoms of mucopolysaccharidosis type VII. These include abnormalities in bone and cartilage development, progressive paralysis, and corneal opacity. Symptoms begin in the first few months of life and progressively worsen.
Breeds
–
Order details
| Test Number | Included only in LABOGeneticsXXL – Cat |
| Abbreviation | Muco |
Test specifications
| Inheritance | autosomal-recessive |
| Gen | GUSB |
| Variant | T-G |
| References | OMIA:000667-9685 |
