Forbes' disease

Alternative eponyms

Related people

Inheritable deficiency of amylo 1,6 glucosidosis with storage of short chained glycogenmolecules in liver and skeleton musculature, resulting in hepatomegaly, cardiomegaly and muscle weakness.

Description

Autosomal recessive inheritable deficiency of amylo 1,6 glucosidosis with storage of short chained glycogenmolecules in liver and skeleton musculature, resulting in hepatomegaly, cardiomegaly and muscle weakness. Other featueres include desire for sweets and carbohydrates; puppet-like facies; mild growth and mental retardation. Both sexes affected; clinical onset in early childhood. Frequent in Israel. Autosomal recessive inheritance.

Bibliography

  • G. B. Forbes:
    Glycogen storage disease: Report of a case with abnormal glycogen structure in liver and skeletal muscle.
    Journal of Pediatrics, St. Louis, 1953, 42: 645-653.
  • G. T. Cori:
    Biochemical aspects of glycogen deposition disease.
    Bibliotheca paediatrica, Basel, 1958, 66: 344-358.

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