title: Glycogen storage disease type IV: inherited deficiency of branching enzyme activity in cats.
abstract: Glycogen storage disease type IV due to branching enzyme deficiency was found in an inbred family of Norwegian forest cats, an uncommon breed of domestic cats. Skeletal muscle, heart, and CNS degeneration were clinically apparent and histologically evident in affected cats older than 5 mo of age, but cirrhosis and hepatic failure, hallmarks of the human disorder, were absent. Beginning at or before birth, affected cats accumulated an abnormal glycogen in many tissues that was determined by histochemical, enzymatic, and spectral analysis to be a poorly branched alpha-1,4-D-glucan. Branching enzyme activity was less than 0.1 of normal in liver and muscle of affected cats and partially deficient (0.17-0.75 of normal) in muscle and leukocytes of the parents of affected cats. These data and pedigree analysis indicate that branching enzyme deficiency is a simple autosomal recessive trait in this family. This is the first reported animal model of human glycogen storage disease type IV. A breeding colony derived from a relative of the affected cats has been established.
authors.affiliation: Section of Medical Genetics, School of Veterinary Medicine, University of Pennsylvania, Philadelphia 19104-6010.
authors.forename: J C
authors.initials: JC
authors.lastname: Fyfe
authors.forename: U
authors.initials: U
authors.lastname: Giger
authors.forename: T J
authors.initials: TJ
authors.lastname: Van Winkle
authors.forename: M E
authors.initials: ME
authors.lastname: Haskins
authors.forename: S A
authors.initials: SA
authors.lastname: Steinberg
authors.forename: P
authors.initials: P
authors.lastname: Wang
authors.forename: D F
authors.initials: DF
authors.lastname: Patterson
mesh_terms: D015061:1,4-alpha-Glucan Branching Enzyme / Q000172:deficiency*; D000818:Animals; D002371:Cat Diseases / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D002415:Cats; D005260:Female; D005808:Genes, Recessive; D006003:Glycogen / Q000378:metabolism; D006011:Glycogen Storage Disease Type IV / Q000201:enzymology / Q000235:genetics / Q000662:veterinary*; D002479:Inclusion Bodies / Q000473:pathology; D008297:Male; D009132:Muscles / Q000473:pathology; D009420:Nervous System / Q000473:pathology; D010375:Pedigree
chemical_list: D006003:Glycogen; D015061:1,4-alpha-Glucan Branching Enzyme