Skip to main content

Address

Panerių g. 246
48454 Kaunas
Lithuania

Opening hours

  • Mon – Fri
    9 :00 – 17 00
  • Sat
    Closed    
  • Sun
    Closed   
Horse DNA testing illustration

Glycogen Branching Enzyme Deficiency – GBED

Code: P791

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

Search by our number or the laboratory number. An unmatched number is saved as a previous / external reference. No new physical sample is needed.
The add to cart button will appear once you select the values above

Short description

A deficiency in the glycogen branching enzyme (GBED) is responsible for a recessive fatal fetal and neonatal glycogen storage disease (GSD) in American Quarter Horses and American Paint Horses named GSD IV.

General information

A deficiency in the glycogen branching enzyme (GBED) is responsible for a recessive fatal fetal and neonatal glycogen storage disease (GSD) in American Quarter Horses and American Paint Horses named GSD IV. A causual mutation is found in the GBE1 gene.

Specifications

Breeds

American Quarter Horse, American Paint Horse
Gene

GBE1
Chromosome

26
Mutation

c.102C>A
Organ

Muscles
Specimen

Hair, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Autosomal Recessive
Also known as

GSD IV

Clinical features

This disease leads to stillbirths and sometimes in late term abortion, cardiac or respiratory failure, seizures and muscle weakness. Affected horses often die within the first half year of life, and for surviving foals, euthanasia may be desirable due to poor quality of life.

References

Pubmed ID: 15366377

Year published: 2004

Omia ID: 420

Omia variant ID:

Turnaround information

  • 15 working days