Glycogen Branching Enzyme Deficiency in a foal

Glycogen Branching Enzyme Deficiency in a foal

History: A 1 week-old male Quaterhorse was submitted for necropsy. At 12 hours old he nursed 3 times but became progressively recumbent and failed to nurse. Upon arrival to the referral hospital he was laterally recumbent with poor mentation. Initial blood chemistry revealed blood glucose of 93 mg/dL, BUN 27 mg/dL, Creatinine of 4.3 mg/dL, lactate of 2.2 mmol/L, CK > 30,000 u/L, and hypoproteinemia. Muscle biopsies were sent to the University of Minnesota. CBC indicated left shift. Later CBC/Chem indicated leukopenia, anemia, hypoproteinemia, hyperfibrinogenemia, and hyperglycemia. He died acutely.

Gross Findings:

The foal was thin with minimal body fat stores. The cranial lung lobes were bilaterally dark red, and firm. There was mild interlobular edema and collapse of the cranial lung lobes. The trachea, primary bronchi, and itra-lobular bronchi contained serous and fibrinous exudate.

The skeletal muscles were diffusely soft pale and pink.


Skeletal muscle: There is mild multifocal myocyte degeneration and necrosis. Diffusely large numbers of myocyes contain intracytoplasmic pale basophilic round inclusions which replace the sarcoplasm. Myocytes also have pale vacuoles in the cytoplasm.

Heart: Cardiac myocytes are similar to skeletal muscle. The most striking feature is the large basophilic inclusions in Purkinje fibers.

Heart, Skeletal muscle PAS w/ glycogen digestion: Both the pale basophilic inclusions and the pale vacuolar areas in the cytoplasm are positive with PAS/with glycogen digestion (using diastase or amylase).

Heart, H&E stain: Cardiac myocytes contain pale basophilic inclusions and often have pale vacuolated areas

Heart, PAS/Amylase: PAS positive material (dark purple) is found as clumps of granular subtance in myocytes, and as smooth round inclusions. This is not digested with amylase indicating its not normal glycogen, rather some abnormal polysaccharide

Hear, H&E stain: IN the center the Purkinje fibers contain large pale basophilic inclusions

Heart, PAS/amylase: Amylase resistant polysaccharide bodies coincides with the pale basophilic inclusions, and the pale vacuolar areas

Normal Heart, PAS/amylase: Normal glycogen is digested by amylase and is not present in normal heart from a control animal

Normal Muslce, PAS/amylase: Normal glycogen is digested by amylase leaving no PAS positive material in cells

Morphologic Diagnosis:

Skeletal muscle: Generalized multifocal myocyte necrosis, with diffuse pale basophilic amylase resistant sarcoplasmic inclusions, and amylase resistant polysaccharide.

Heart: Diffuse cardiomyocyte and Purkinje fiber inclusions and amylase resistant polysaccharide.


Glycogen Branching Enzyme Deficiency is an inherited defect in an enzyme that creates branches in glycogen for storage in tissues.  This disease is similar to the Type IV glycogenosis in humans (glycogen storage disease caused by a deficiency in alpha-1,4-glucan 6-glycosyl transferase). It is also similar to adult polyglucosan body disease in humans, also caused by a defect in a glycogen branching enzyme.  Organs affected with these disease include liver, CNS, PNS, and muscles.  The defect is an inherited autosomal recessive mutation in the GBE1 gene, causing a premature stop codon. This mutation results in poorly functional enzyme and therefore poorly branched glycogen, which is not capable of being transformed into glucose by debranching enzyme.

The University of California Davis and Vetgen are  licensed  to conduct testing to test a foal, mare or stallion for carrier status.  You can find more information at and


Ward, T.L. et al. 2004. Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IV. Mammalian Genome vol 15: 570-577.

Valberg, S.J. et al. 2001. Glycogen Branching Enzyme Deficiency in Quarter Horse Foals. J. Vet. Intern. Med. Vol 15:572-580.

About Brian

Anatomic Pathologist, VetPath Services, Stone Ridge, NY- musculoskeletal, oral/dental, and sinonasal diseases
This entry was posted in Necropsy Cases and tagged , , , . Bookmark the permalink.

Leave a Reply

Please log in using one of these methods to post your comment: Logo

You are commenting using your account. Log Out /  Change )

Google photo

You are commenting using your Google account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

Connecting to %s