Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European study on glycogen storage disease type I (ESGSD I)

Abstract

there is still wide variation in methods of dietary and pharmacological treatment of glycogen storage disease type I. Intensive dietary treatment will improve, but not correct completely, clinical and biochemical status and fewer patients will die as a direct consequence of acute metabolic derangement. With ageing, more and more complications will develop of which progressive renal disease and the complications related to liver adenomas are likely to be two major causes of morbidity and mortality.

Improvements of hypertriglyceridemia and hyperlacticemia in Japanese children with glycogen storage disease type Ia by medium-chain triglyceride milk

“…Furthermore, it has been postulated that hypoglycemia accounts for most of the hypertriglyceridemia and hyperlacticemia [2,4,8,13]. From this context, nutritional management of this disorder has been based on high-carbohydrate diets, such as starches, which counteract the rapidly falling blood glucose level [2,4,13].…”

“…Hypoglycemia is often a life-threatening problem in patients with GSD Ia [4,13]. Furthermore, it has been postulated that hypoglycemia accounts for most of the hypertriglyceridemia and hyperlacticemia [2,4,8,13].…”

“…Accordingly, besides profound hypoglycemia together with hyperlacticemia, patients with GSD Ia often present with prominent hypertriglyceridemia [2,4,8,13]. A considerable suppression of liver fatty acid oxidation in these patients has also been documented [3,4,7,12,13].…”

“…A considerable suppression of liver fatty acid oxidation in these patients has also been documented [3,4,7,12,13]. Dietary treatment of GSD Ia with carbohydrate-rich, lipid-poor meals such as cornstarch has been shown to prevent hypoglycemia and to lower plasma lactate levels, but hypertriglyceridemia is often resistant to dietary treatment [2,4,8,13].…”

Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature

“…Granulocyte-colony stimulating factor (G-CSF) is used to restore the neutrophil count, improve neutrophil function in GSD1b patients and decrease the frequency of infections [2]. Long-term complications include short stature, liver adenoma, renal damage, osteoporosis and polycystic ovaries [21].…”