Case report: liver glycogen synthase deficiency--a cause of ketotic hypoglycemia.
Glycogen synthase deficiency is a rare inborn error of metabolism, characterized by fasting hypoglycemia, hypoglycemic seizures, and ketonuria. Only 7 families with 14 affected children have been reported. Here, we report an additional patient with this deficiency. Findings in this patient were clinically and biochemically consistent with those reported in patients with ketotic hypoglycemia and may alert the clinician to consider glycogen synthase deficiency.
Rutledge
S L
SL
Division of Neurology, Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL 35233, USA. lrutledge@peds.uab.edu
Atchison
J
J
Bosshard
N U
NU
Steinmann
B
B
D005260:Female; D006008:Glycogen Storage Disease / Q000378:metabolism; D006006:Glycogen Synthase / Q000172:deficiency*; D006801:Humans; D007003:Hypoglycemia / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D007223:Infant; D007231:Infant, Newborn; D007659:Ketones / Q000652:urine; D007662:Ketosis / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics
D007659:Ketones; D006006:Glycogen Synthase