Human pathology

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glycogenosis type 4

MIM.232500

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GSD IV. Cirrhosis. GSD IV. Cytoplasic inclusions in hepatocytes GSD IV. Cytoplasmic inclusions. GSD IV. Macrophages GSD IV. Macrophages GSD IV. PAS. GSD IV. PAS inclusions.
glycogen storage disease type 4, glycogen storage disease type IV, glycogenosis type IV, GSD IV, glycogen branching enzyme deficiency, GBE1 deficiency, Andersen disease, Brancher deficiency, amylopectinosis, familial cirrhosis with deposition of abnormal glycogen, GSD4

Synopsis

- digestive tract

  • numerous large macrophages in the mucosa

Etiology

- glycogen storage disease type IV is caused by mutation in the glycogen branching enzyme (GBE1) (MIM.607839)

  • mutation in the same gene causes an allelic disorder, adult polyglucosan body disease (APED (MIM.263570)

Variants

- fatal perinatal GSD4
- fetal GSD4
- congenital neuromuscular GSD4
- childhood neuromuscular GSD4
- nonprogressive hepatic GSD4
- classic hepatic GSD4
- combined hepatic and muscular GSD4
- adult polyglucosan body disease (APBD) (MIM.263570)

See also

- glycogen storage diseases

References

- Bruno C, van Diggelen OP, Cassandrini D, Gimpelev M, Giuffre B, Donati MA, Introvini P, Alegria A, Assereto S, Morandi L, Mora M, Tonoli E, Mascelli S, Traverso M, Pasquini E, Bado M, Vilarinho L, van Noort G, Mosca F, DiMauro S, Zara F, Minetti C. Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). Neurology. 2004 Sep 28;63(6):1053-8. PMID: 15452297

- van Noort G, Straks W, Van Diggelen OP, Hennekam RC. A congenital variant of glycogenosis type IV. Pediatr Pathol. 1993 Sep-Oct;13(5):685-98. PMID: 8247964

- Penchansky L, Agostini RM, Jaffe R. Leukocyte inclusions in glycogen storage disease, type IV. Pediatr Pathol. 1992 Nov-Dec;12(6):903-5. PMID: 1333075

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