Nutritional deficiencies in a patient with glycogen storage disease type Ib

The current mainstay of treatment in glycogen storage disease type I (GSD I ) is dietary management that includes providing a frequent source of glucos e to prevent hypoglycaemia. To ensure compliance, routine follow-up by a he alth care team, including a dietitian, experienced in the treatment of GSD is necessary. We describe an adolescent patient with GSD Ib in good metabol ic control who was admitted with a 3-month history of weakness, depression, vomiting, decreased appetite and a 11.4-kg weight loss. He had a recent on set of unsteady gait, inability to write, and sore mouth. After an extensiv e work-up, the patient was found to have vitamin B-12, folate, iron and oth er nutritional deficiencies, which explained his symptoms. The patient impr oved within 72 h of initiation of total parenteral nutrition and therapeuti c doses of deficient micronutrients, with a complete recovery in 2 months. Dietary restrictions, dependence on non-food products (e.g. cornstarch in G SD I), and social and developmental issues place individuals with metabolic disorders at a high risk for developing an array of nutritional deficienci es. This case highlights the importance of both close follow-up of the meta bolic control and close monitoring of growth and nutritional intake in indi viduals with inborn errors of metabolism. This case also illustrates the im portance of daily supplementation with appropriate multivitamins, calcium a nd other minerals needed to meet the Recommended Dietary Allowances (RDAs) in these patients.