Name
GLYCOGEN STORAGE DISEASE TYPE 0 ( GLYCOGEN SYNTHASE DEFICIENCY )
DESCRIPTION
DETAIL
D.D. : - ALCOHOLIC FATTY LIVER - OTHER FORMS OF GYCOGEN STORAGE DISEASES - HAEMOLYTIC UREMIC SYNDROME - HEPATIC CARCINOMA, PRIMARY - GLUCAGONOMA* SERUM CREATINE KINASE LEVELS - HIGH * FASTING BLOOD SUGAR - LOW * KETOACIDOSIS * FASTING SERUM LACTATE & ALANINE LEVELS - LOW NORMAL REFERENCE RANGE * POST FEEDING SERUM LACTATE & GLUCOSE LEVELS - CHARACTERISTICALLY HIGH * LFT - MAY BE ABNORMAL IN SOME
TYPENOTES
Genetic counseling is appropriate for all individuals.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 GSD-0. Management includes the provision of an adequate diet and avoidance of fasting hypoglycemia. 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. 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. Recommend the avoidance of highly processed carbohydrates to prevent conversion of excess glucose to lactate. Activity: Activity restrictions are not indicated.
RELATED DISEASE
Not Available Disease
DISEASE
INVESTIGATION
BLOOD SUGAR ( FASTING ), URINE FOR KETONE BODIES, BLOOD SUGAR ( AFTER MEALS ), COMPLETE BLOOD COUNT, LIVER FUNCTION TEST