glycogen storage disease type IV
MIM.232500
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)
Variants
fatal perinatal 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)
Features
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#
GSD IV. Cirrhosis. - Masson Trichrome
GSD IV. Cytoplasic inclusions in hepatocytes - Masson Trichrome
GSD IV. Cytoplasmic inclusions. - Cytoplasmic inclusions in hepatocytes.
GSD IV. Macrophages - Macrophages in the interstitial tissue.
GSD IV. Macrophages - Amylopectin in macrophage cytoplasms. Masson trichrome.
GSD IV. PAS. - PAS inclusion in hepatocyte cytoplasms. PAS material in macrophage cytoplasms.
GSD IV. PAS inclusions. - PAs inclusions in hepatocyte cytoplasms.
Forum de l'article
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