Glycogen-Storage Disease Type 0 (GSD-0) (Glycogen Synthetase Deficiency) Treatment & Management

Updated: May 03, 2017
  • Author: Reem Saadeh-Haddad, MD; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Treatment

Medical Care

Treat the patient with an acute episode of hypoglycemia according to the standard fasting protocol. An endocrinologist or metabolic or biochemical specialist is suggested to evaluate and manage the long-term care of a patient with suspected glycogen-storage disease type 0 (GSD-0).

Management includes the provision of an adequate diet and avoidance of fasting hypoglycemia.

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Consultations

Refer the patient to a dietitian experienced with glycogen-storage disease type 0 and the management of disorders that increase the risk of hypoglycemic episodes.

Refer the family of the affected child to a medical geneticist or genetic counselor to review the inheritance of glycogen-storage disease type 0. Inheritance is autosomal recessive, and parents have a 25% risk of producing an affected offspring with each pregnancy. Extended relatives may also be identified as carriers, with accompanying risks to future children.

Formally evaluate siblings of the affected patient (proband) for manifestations because intrafamily variability is observed, and a child with mild disease may be clinically asymptomatic.

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Diet

Determine the degree of dietary intervention required for each patient and carefully follow up the patient to ensure that he or she is consuming a constant source of glucose to prevent fasting hypoglycemia and to provide adequate calories and protein for growth.

Dietary management includes frequent consumption of protein-rich meals and nighttime feedings of uncooked cornstarch (2g/kg), which acts as a slow-release form of glucose. This can also be administered during acute illness or times of inadequate oral intake. [5]

Recommend the avoidance of highly processed carbohydrates to prevent conversion of excess glucose to lactate.

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Activity

Activity restrictions are not indicated.

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