Glycogen storage disease type IV: inherited deficiency of branching enzyme activity in cats.
Pediatr Res
; 32(6): 719-25, 1992 Dec.
Article
en En
| MEDLINE
| ID: mdl-1337588
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.
Buscar en Google
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Enfermedades de los Gatos
/
Enfermedad del Almacenamiento de Glucógeno Tipo IV
/
Enzima Ramificadora de 1,4-alfa-Glucano
Límite:
Animals
Idioma:
En
Revista:
Pediatr Res
Año:
1992
Tipo del documento:
Article
Pais de publicación:
Estados Unidos