title: Asymptomatic critical hypoglycaemia: a dangerous presentation of glycogen storage disease type Ib in infancy.
abstract: We report the case of a 3-month-old boy who presented with a 3-day history of respiratory tract infection and poor feeding. He was incidentally found to have profound hypoglycaemia, high-anion-gap lactic acidosis, ketonuria, hyperlipidemia, hepatomegaly, growth failure and neutropenia. Glycogen storage disease type Ib (GSD Ib), an autosomal recessive metabolic defect of the microsomal transporter glucose-6-phosphate-translocase, was suspected and confirmed by genetic testing. Treatment consisted of initial intravenous glucose and fluids to correct his lactic acidosis, followed by a strict dietary protocol consisting of soy-based infant formula enriched with glucose polymers from cornstarch and overnight gastrostomy feeds.
  
  
  CONCLUSIONS
  GSD I should be considered in all young children presenting with hypoglycaemia and lactic acidosis. Presence of neutropenia further confirms GSD Ib. Even critical hypoglycaemia can be clinically unapparent in affected children.
authors.affiliation: Department of Paediatrics, Children's Hospital, London Health Sciences Centre, University of Western Ontario, London, ON, Canada. dirk.bock@lhsc.on.ca
authors.forename: Dirk E
authors.initials: DE
authors.lastname: Bock
authors.forename: Charles A
authors.initials: CA
authors.lastname: Rupar
authors.forename: Chitra
authors.initials: C
authors.lastname: Prasad
mesh_terms: D000140:Acidosis, Lactic / Q000473:pathology*; D000367:Age Factors; D017920:Antiporters / Q000378:metabolism; D005953:Glycogen Storage Disease Type I / Q000150:complications* / Q000473:pathology; D016179:Granulocyte Colony-Stimulating Factor / Q000378:metabolism; D006801:Humans; D007003:Hypoglycemia / Q000175:diagnosis / Q000209:etiology* / Q000473:pathology; D007223:Infant; D008297:Male; D009004:Monosaccharide Transport Proteins / Q000378:metabolism; D009503:Neutropenia / Q000473:pathology*; D012720:Severity of Illness Index
chemical_list: D017920:Antiporters; D009004:Monosaccharide Transport Proteins; C111261:glucose 6-phosphate(transporter); D016179:Granulocyte Colony-Stimulating Factor