J. Zupančič
Otroški oddelek, Splošna Bolnišnica Celje, Celje, Slovenija

M. Žerjav Tanšek
Klinični oddelek za endokrinologijo, diabetes in presnovne bolezni, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

N. Bratanič
Klinični oddelek za endokrinologijo, diabetes in bolezni presnove, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana

Abstract

Glycogen storage disease type 1a (GSD Ia) is an autosomal recessive disease, which is caused by a deficiency of glucose-6-phosphatase (G6Pase), an enzyme that catalyses the hydrolysis of glucose-6-phosphate (G6P) into glucose and inorganic phosphate (Pi), a key step in the maintenance of glucose homeostasis. Patients with GSDIa present with hepatomegaly due to glycogen and fat accumulation in the liver, a characteristic ‘‘doll-like’’ face, short stature and chronic fatigue. Laboratory findings suggestive of GSDIa include hypoglycaemia after a four- to six-hour fast, lactic acidosis, hypertriglyceridaemia and hyperuricaemia. Early diagnosis, based on clinical and laboratory findings, is possible and easy. The diagnosis must be confirmed by genetic testing. The management of GSDIa is essentially dietary, consisting of frequent meals, preferably containing slow-release carbohydrates such as uncooked cornflour, at regular intervals to provide high normal blood sugar levels, restriction of fructose, sucrose, and lactose intake. Gene therapy is still in the research stage. Proper dietary management decreases the risk of long-term complications, which include short stature, osteoporosis or bone mineral loss, kidneydisease with hypertension and proteinuria, hepatocellular adenomas, pancreatitis secondary to hypertriglyceridaemia, and potentially life-threatening hypoglycaemia. A small proportion of patients are refractory to treatment, which can lead to kidney and liver failure. The article presents the follow-up of two patients with GSD1a, illustrating the importance of proper dietary management for normal development.

Key words: Key words: Glycogen storage disease type 1a, glucose-6-phosphatase, hypoglycaemia, hyperlactacidaemia, hyperlipidaemia, hyperuricaemia.