title: Glycogen storage disease type I--between chronic ambulatory follow-up and pediatric emergency.
abstract: OBJECTIVE
  To describe the characteristics of patients with type I glycogenosis, the presentation types, the main clinical signs, the diagnostic criteria and also the disease outcomes on long term follow-up.
  
  
  METHODS
  The study group consisted of 6 patients (medium age 3 years 6 months) admitted in hospital between 2001 and 2005 and followed-up for 1 to 5 years. The sex ratio was 1:1.
  
  
  RESULTS
  The referral reasons varied from hepatomegaly incidentally discovered (3 of 6 patients) to abdominal pain (4 of 6 patients), growth failure (3 of 6 patients), symptoms of hypoglycemia (3 of 6 patients), recurrent epistaxis (1 patient). Hepatomegaly was present in all cases. Biological profile: hypoglycemia, increased transaminase values, hypertriglyceridemia, lactic acidosis, normal uric acid levels. Two patients had neutropenia and other two had increased glomerular filtration rate. Liver biopsy showed glycogen-laden hepatocytes and markedly increased fat. Four patients had type Ia and 2 patients type Ib glycogenosis. The therapy consisted of: diet, ursodeoxycholic acid, granulocyte colony-stimulating factor, broad spectrum antibiotics for those with type Ib glycogenosis. The follow-up parameters were clinical, biological, imaging. Metabolic interventions and antiinfectious therapy were necessary. All patients are alive, two of them on the waiting list for liver transplantation.
  
  
  CONCLUSIONS
  Glycogen storage disease type I is a rare condition, but with possible life-threatening consequences. It has to be kept in mind whenever important hepatomegaly and/or hypoglycemia are present.
authors.affiliation: 2nd Clinic of Pediatrics, Sf. Maria Emergency Hospital for Children, Str. Vasile Lupu 62, Iasi, Romania. emoraru@iasi.mednet.ro
authors.forename: Evelina
authors.initials: E
authors.lastname: Moraru
authors.forename: Oana
authors.initials: O
authors.lastname: Cuvinciuc
authors.forename: Luiza
authors.initials: L
authors.lastname: Antonesei
authors.forename: Doina
authors.initials: D
authors.lastname: Mihaila
authors.forename: Laura
authors.initials: L
authors.lastname: Bozomitu
authors.forename: Tania
authors.initials: T
authors.lastname: Rusu
authors.forename: Bogdan
authors.initials: B
authors.lastname: Stana
authors.forename: Paula
authors.initials: P
authors.lastname: Sacaci
authors.forename: Ana
authors.initials: A
authors.lastname: Luchian
authors.forename: Livia
authors.initials: L
authors.lastname: Bratu
authors.forename: Alice
authors.initials: A
authors.lastname: Popescu
authors.forename: Ozkan
authors.initials: O
authors.lastname: Mircan
authors.forename: Dan
authors.initials: D
authors.lastname: Moraru
mesh_terms: D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D005953:Glycogen Storage Disease Type I / Q000150:complications* / Q000175:diagnosis* / Q000628:therapy; D006801:Humans; D007223:Infant; D008297:Male; D016896:Treatment Outcome