Glycogen storage disease: new approaches to therapy

Abstract

Detailed studies of the effect of 32 days of intravenous alimentation on the metabolic, hormonal and clinical status of a 4-year-old boy with Type I glycogenosis revealed that the biochemical abnormalities and growth failure in this disorder are a consequence of glucose lack after brief periods of fasting which results from the inborn enzyme deficiency. Long-term (1.5-5.7 years) observations of the therapeutic effects of portacaval shunt without and with continuous overnight intragastic glucose by gastrostomy in two brothers, and of continuous overnight intragastric glucose alone in five other patients with this disorder, on metabolic status and physical growth and development suggest that adequate glucose can be provided by the intragastric route without hepatic portal circulatory by-pass. The introduction of this therapy in the first year of life should prevent the serious risk to life and long-term failure in growth and development previously observed in patients with Types I and III glycogenosis.