Article
A complex rearrangement in GBE1 causes both perinatal hypoglycemic collapse and late-juvenile-onset neuromuscular degeneration in glycogen storage disease type IV of Norwegian forest cats.
Molecular genetics and metabolism - 1 Apr 2007
Fyfe John C, Kurzhals Rebeccah L, Hawkins Michelle G, Wang Ping, Yuhki Naoya, Giger Urs, Van Winkle Thomas J, Haskins Mark E, Patterson Donald F, Henthorn Paula S
Abstract excerpt
Deficiency of glycogen branching enzyme (GBE) activity causes glycogen storage disease type IV (GSD IV), an autosomal recessive error of metabolism. Abnormal glycogen accumulates in myocytes, hepatocytes, and neurons, causing variably progressive, benign to lethal organ dysfunctions. A naturally occurring orthologue of human GSD IV was described previously in Norwegian forest cats (NFC). Here, we report that...
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