Abstract
In the 13 yrs since hepatic glycogen synthetase (GS) deficiency was first described in identical twins no further cases seem to have been observed. We now report on K.S. who had suffered from morning convulsions since the age of 7. Three 24-h metabolic profiles showed fasting hypoglycaemia (mean 1. 5 mM), hyperketonaemia (mean total ketones 8. 5 mM) but normal lactate (mean 1. 5 mM). One h after lunch the mean values were 11.7 mM glucose, 0.2 mM ketones and 6.0 mM lactate. The former levels reappeared after an 8 h fast. Glucagon (0.03 mg/kg i.m.) caused a rise in glucose (δ:2 mM) 3 h after a meal with a fall in lactate and alanine. No effect was seen after a 12 h fast. Normal increments in glucose followed oral galactose or alanine. Liver and abdominal muscle biopsies were taken. Glycogen content was subnormal in liver: 0.65% (6 controls: 1–6%) but normal in muscle: 0.76% (2 controls: 0.70, 0.72%). Glycogen synthetase (EC 2.4.1.11) was virtually absent from liver: 0.04 U/g wet wt. c G-6-P, 0.01 U/g s G-6-P (6 controls 1.99-3.60, 0.03-0.16) but fully active in muscle: 1.71 U/g wet wt. c G-6-P, 0.11 U/g s G-6-P (2 controls 1.52, 1.24; 0.11, 0.06). GS in K.S. liver extract was not activated by K.S. muscle extract nor by control liver or muscle. Liver extract of K.S. did not inhibit GS of K.S. muscle or of control liver or muscle. Hepatic GS deficiency causing fasting hypoglycaemia does indeed exist.
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Aynsley-Green, A., Williamson, D. & Gitzelmann, R. 143: HEPATIC GLYCOGEN SYNTHETASE DEFICIENCY: METABOLIC AND ENZYME STUDIES IN A NINE YEAR OLD GIRL. Pediatr Res 10, 894 (1976). https://doi.org/10.1203/00006450-197610000-00134
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DOI: https://doi.org/10.1203/00006450-197610000-00134