Liver glycogen disease in two generations of a family

Autor: Daniel Stowens, Gerald L. Saks, Joseph E. Sokal, Marian Leahy, Charles U. Lowe
Rok vydání: 1964
Předmět:
Zdroj: The American Journal of Medicine. 36:847-855
ISSN: 0002-9343
DOI: 10.1016/0002-9343(64)90114-7
Popis: The diagnosis of liver glycogen disease has been established in a twenty-three year old man and in his two year old son, thus providing direct evidence in support of the hypothesis that this disease is genetically determined. Clinical, biochemical and histologic findings were identical in both patients. Both suffered from a type of glycogen disease characterized by hepatomegaly, abnormally high liver glycogen concentration and moderate growth retardation during childhood, but without clinically significant hypoglycemia, abnormalities of lipid metabolism or impairment of the hyperglycemic response to glucagon. As in other forms of liver glycogen disease, certain persistent abnormalities could be demonstrated in the adult patient, despite apparently complete clinical recovery from the disease.
Databáze: OpenAIRE