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

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Specifications

Breeds

Gene

Organ

specimen

Hair, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

General information

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

Clinical features

This disease leads to stillbirths and sometimes in late term abortion, cardiac or respiratory failure, seizures, muscle weakness or they die suddenly of were euthanized within half a year of age.

Additional information

References

Pubmed ID: 15366377

Omia ID: 420

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