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February 1969

Growth in Glycogen-Storage Disease Type 1Evaluation of Endocrine Function

Am J Dis Child. 1969;117(2):169-177. doi:10.1001/archpedi.1969.02100030171009

GLYCOGEN-storage disease (GSD) type 1 is an inborn error of carbohydrate metabolism resulting in diminished activity of the enzyme glucose-6-phosphatase in the liver,1 kidney,2 and small intestine.3 Clinically, the disease is characterized by hypoglycemic seizures, lactic acidosis, hyperuricemia,4 hyperlipidemia,5 hepatomegaly, short stature, and retarded development of secondary sex characteristics.

The pattern of growth and sexual development in patients with GSD type 1 is suggestive of a deficiency of one or more of the pituitary trophic hormones. Therefore we have investigated those functions which influence growth and sexual development in patients with this disorder.

genital defect may be strengthened.

Report of Cases  Four patients (patient 1, a 21-year-old white man; patient 2, a 17-year-old oriental girl; pa tient 3, a 14-year-old white girl; and patient 4, a 13-year-old white boy) with GSD, type 1, who met the following biochemical criteria were studied: (1) no increase in the