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Mucopolysaccharidoses stands for a broad group of autosomal recessive disorders of lysosomal glycosaminoglycan (GAG) catabolism.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
General information
Mucopolysaccharidoses stands for a broad group of autosomal recessive disorders of lysosomal glycosaminoglycan (GAG) catabolism. Mucopolysaccharidosis type VII (MPS VII) is caused by GUSB (β-Glucuronidase) deficiency. This mutation discrupts the normal function of several tissues.
Clinical features
The disruption of several tissues can cause anatomical abnormalities, like; bilateral corneal clouding, delayed dental eruption, abdominal enlargement, and multiple skeletal abnormalities including short maxilla, fused cervical vertebrae, flattened, thorax with pectus excavatum, short thoracic and lumbar vertebrae, bilateral coxofemoral joint subluxation and growth retardation. These abnormalities can already be seen in the first months after birth.
Additional information
References
Pubmed ID: 10366443
Omia ID: 667
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