ESPE Abstracts

Introduction: Hypoglycemia can be caused by inherited metabolic disorders, such as glycogen storage disease (GSD) type 0a, which is mild form of the GSD. After diagnosis patient received appropriate treatment and care. Assessment 3 years after diagnosis may improve the treatment of key disorders in this disease and allow the identification of disorders occurring in long-term patients.

Case report: 4 years old female patient with recurrent fasting ketotic hypoglycemia, post-prandial hyperglycemia, was admitted to Diabetology Department for further investigations. Measurements: Height 104,6cm (50-75cc); body mass 18,4 kg (75-90cc); BMI 16,8 kg/m2 (75-90cc). Phenotype was normal. Tanner stage 1. OGTT with lactate was performed. Fasting hypoglycemia 41 mg%, fasting lactate 3,0 mmol/l and hyperglycemia 170 mg% in 1^st hour, in 2^nd 136 mg% were found. Lactate level considerably increased after glucose administration - 7,3 mmol/l. HbA1c 5,2%. Uric acid, albumin, creatinine, cortisol and free thyroxine levels were normal. Total cholesterol, LDL-cholesterol, triglycerides were significantly elevated. ALT was slightly elevated. There were no organomegaly in ultrasound. Antibodies for celiac disease were positive. Genetic test detected pathogenic double heterozygous mutation in GYS2 gene, NM_021957: c.116A>G p.(Asn39Ser) c.1472T>G p.(Met491Arg), which confirms glycogen storage disease type 0a. Patient was fed 6 times a day. A gluten-free diet with a low glycemic index was introduced. In addition, the diet was low in fat and carbohydrates, rich in proteins, and unsaturated fatty acids. A cornstarch supply of 1g/kg once daily before going to sleep was recommended. Fasting glucose levels in capillary were in range 65-75 mg%. 7 years old patient, 3 years after diagnosis, was admitted for re-examination. Measurements: Height 127,8cm (75cc); body mass 27 kg (75cc); BMI 16,5 kg/m2 (75cc); Tanner stage 1. OGTT was performed: fasting glucose:72 mg% (10 hours after cornstarch), in 1^st hour of test:235 mg%, in 2^nd hour: 102 mg%. After glucose lactate was only slightly elevated:2,4mmol/l. HbA1c 5,3%; LDL-cholesterol and total cholesterol were slightly elevated. Triglycerides, ALT, uric acid, creatinine, albumin, cortisol, free thyroxine levels were normal. Celiac antibodies were negative.

Conclusion: Patients with GSD type 0a need follow-up during dietary treatment. OGTT with lactate, lipids profile, liver ultrasound may be helpful. Early school age patients suspected of GSD typu 0a with fasting hypoglycemia and postprandial hyperglycemia may not present significant increase lactate in OGTT.