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.
- 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.
What is an eponym?An eponym is a word derived from the name of a person, whether real or fictional. A medical eponym is thus any word related to medicine, whose name is derived from a person.
What is Whonamedit?Whonamedit.com is a biographical dictionary of medical eponyms. It is our ambition to present a complete survey of all medical phenomena named for a person, with a biography of that person.
Disclaimer:Whonamedit? does not give medical advice.
This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor.