ISSN:
1432-1076
Keywords:
Key words Glycogen deficiency
;
Glycogen synthase
;
Ketotic
;
hypoglycaemia
;
Corn (maize)
;
starch
;
Electron microscopy
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract Three children from two German families are described and the observations compared with the previously published three families comprising eight patients. The two index cases presented with morning fatigue, had ketotic hypoglycaemia when fasting which rapidly disappeared after eating, and hepatic glycogen deficiency and absent or very low hepatic glycogen synthase activity. Metabolic profiles comprising glucose, lactate, alanine, and ketones in blood were typical for hepatic glycogen synthase deficiency. Symptoms were rapidly relieved and chemical signs corrected by introducing frequent protein-rich meals and night-time feedings of suspensions of uncooked corn (maize) starch. The discovery of oligosymptomatic and asymptomatic siblings suggests that there are more persons with undiagnosed hepatic glycogen synthase deficiency. Conclusion Liver glycogen synthase deficiency is likely to be more common than is believed today. It should be sought in children who, before the first meal of the day, present with drowsiness, lack of attention, pallor, uncoordinated eye movements, disorientation or convulsions and who have hypoglycaemia and acetone in urine.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF01957905
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