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Article

Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).

Neurology - 28 Sept 2004

Bruno C, van Diggelen O P, Cassandrini D, Gimpelev M, Giuffrè B, Donati M A, 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

Abstract excerpt

BACKGROUND: Glycogen storage disease type IV (GSD-IV) is a clinically heterogeneous autosomal recessive disorder due to glycogen branching enzyme (GBE) deficiency and resulting in the accumulation of an amylopectin-like polysaccharide. The typical presentation is liver disease of childhood, progressing to lethal cirrhosis. The neuromuscular form of GSD-IV varies in onset (perinatal, congenital, juvenile, or...

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PMID: 15452297
DOI: 10.1212/01.wnl.0000138429.11433.0d

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