Type 0 glycogen storage disease (GSD 0) is caused by a deficiency in glycogen synthase, an enzyme critical for adequate glycogen synthesis. As a result, there is a marked decrease in glycogen stores resulting in fasting hypoglycemia and post-prandial hyperglycemia. Dietary carbohydrates are preferentially converted to lactate.
Synonyms:
Hepatic Glycogen Synthase Deficiency
In patients with Type 0 Glycogen Storage Disease, fasting ketotic hypoglycemia develops upon cessation of night time feedings. Early in infancy, children are usually asymptomatic, but weaning from overnight feeds is difficult. During gastrointestinal illness or periods of poor enteral intake, children may become lethargic and usually the hypoglycemia is an incidental finding. Growth throughout childhood may be mildly delayed, but most children remain developmentally normal. Fatigue with exertion is common, and the aforementioned lactic acid accumulation with carbohydrate intake may contribute to muscle cramps. The physical exam is usually normal with no hepatomegaly. Glucosuria and ketonuria are common in the morning after breakfast, and may lead to confusion regarding early diabetes.
Diagnosis of Type 0 Glycogen Storage Disease should be considered in any child with ketotic hypoglycemia who has a history of needing frequent meals or snacks. Monitoring will reveal a unique metabolic disturbance characterized by alternating fasting hypoglycemia and hyperketonemia followed by hyperglycemia and hyperlacticacidemia with feeding. A liver biopsy shows hepatocytes that contain only small amounts of glycogen with moderate steatosis. Mutation analysis likely will replace liver biopsies in the near future as the gold standard for confirmation of the diagnosis.
The goal of treatment for Type 0 GSD is to prevent hypoglycemia by avoiding fasting. Frequent meals and snacks can be given every 3-4 hours during the day. Uncooked cornstarch (2 grams/kg) will prevent hypoglycemia overnight. As carbohydrates are preferentially shunted to lactic acid, a diet with increased amounts of protein is recommended.
GENERALS – FASTING – agg.
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GENERALS – DIABETES MELLITUS
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Type 0 Glycogen Storage Disease is inherited in an autosomal recessive manner, and is due to mutations in the GYS2 gene which is located on chromosome 12p12.2. While only 15 cases have been described as there is evidence that this disease is under diagnosed; prevalence estimates, however, have not been made. Type 0 GSD affects both genders and cases.
Dr. Rajneesh Kumar Sharma
Homoeo Cure & Research Centre P. Ltd.
NH 74, Moradabad Road, Kashipur (Uttaranchal) 244713 India
Ph- 05947- 275535, 260327, 274338, 277418
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drrajneeshhom@hotmail.com, drrajneshhom@yahoo.co.in