A case of glycogen storage disease type Ib presenting with prolonged neonatal hypoglycaemia and minimal metabolic abnormalities

Acta Paediatr. 2010 Feb;99(2):163-4. doi: 10.1111/j.1651-2227.2009.01548.x. Epub 2009 Oct 19.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Antiporters / genetics
  • Diagnosis, Differential
  • Glucose / administration & dosage
  • Glucose / metabolism
  • Glycogen Storage Disease Type I / complications
  • Glycogen Storage Disease Type I / diagnosis*
  • Glycogen Storage Disease Type I / metabolism
  • Humans
  • Hypoglycemia / etiology*
  • Infant
  • Infant, Newborn
  • Insulin / blood
  • Insulin / metabolism
  • Lactic Acid / blood
  • Lactic Acid / metabolism
  • Male
  • Monosaccharide Transport Proteins / genetics
  • Triglycerides / blood
  • Triglycerides / metabolism

Substances

  • Antiporters
  • Insulin
  • Monosaccharide Transport Proteins
  • Triglycerides
  • glucose 6-phosphate(transporter)
  • Lactic Acid
  • Glucose