NEONATAL INTERVENTION IN TYPE I GLYCOGEN STORAGE DISEASE (GSD)

Abstract

As the role of placental glucosc-6-phosphatase is not known, children with this type of GSD may be severely affected at birth. If the diagnosis can be made at that time, treatment should be instituted prophylactically before growth is further affected. We studied one symptomatic GSD infant, microcephalic at birth, in whom the diagnosis was established by metabolic studies and liver biopsy (glucose-6-phosphatase activity < 5% of normal). Treatment, instituted at age 4½ months, consisted of a glucose and low fat formula (Vivonex, 20 cal/oz) given as a 12 hr continuous feeding with added calcium at night delivered via gastrostomy and infusion pump, and two hourly daytime formula feedings plus solids, with glucose at the only carbohydrate.

After one month of therapy, the initial hypoglycemia (< 25 mg/dl), hyperuricemia (7.9 mg/dl), lacticacidemia (136 ng/dl), acidosis (CO₂ 17 mM/L) and elevated liver enzymes had reverted to normal. Triglycerides (2 hr pc) remained elevated. Correction of the microcephaly was noted within 6 weeks, and increase in weight velocity almost immediately after starting therapy. The child has been maintained on this feeding regime at home. Developmentally, at 37 weeks chronologic age, her adaptive behavior was at the 40 week level.

This case study implies that the placenta of this patient with Type I glycogen storage disease did not contain glucose-6-phosphatase and therefore did not protect the fetus from intrauterine metabolic derangement which affected brain growth. Prophylactic neonatal dietary intervention prevented further deterioration and induced significant catch-up growth and is therefore recommended for all future cases identified.

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