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February 1969

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

Author Affiliations

Los Angeles
From the Division of Metabolic-Renal Diseases, Department of Pediatrics, Childrens Hospital of Los Angeles (Drs. Fine and Donnell); the Department of Pediatrics, School of Medicine, University of Southern California, Los Angeles (Drs. Fine, Frasier, and Donnell); and the Center for Health Sciences, and Pacific State Hospital, Pomona, Calif (Dr. Frasier).

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

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