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Mucopolysaccharidoses stands for a broad group of autosomal recessive disorders of lysosomal glycosaminoglycan (GAG) catabolism.

10 working days

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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