Case report: liver glycogen synthase deficiency--a cause of ketotic hypoglycemia

Pediatrics. 2001 Aug;108(2):495-7. doi: 10.1542/peds.108.2.495.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Female
  • Glycogen Storage Disease / metabolism
  • Glycogen Synthase / deficiency*
  • Humans
  • Hypoglycemia / diagnosis
  • Hypoglycemia / etiology*
  • Hypoglycemia / genetics
  • Infant
  • Infant, Newborn
  • Ketones / urine
  • Ketosis / diagnosis
  • Ketosis / etiology*
  • Ketosis / genetics
  • Metabolism, Inborn Errors / diagnosis
  • Metabolism, Inborn Errors / genetics

Substances

  • Ketones
  • Glycogen Synthase