Abstract
The current mainstay of treatment in glycogen storage disease type I (GSD I) is dietary management that includes providing a frequent source of glucose to prevent hypoglycaemia. To ensure compliance, routine follow-up by a health care team, including a dietitian, experienced in the treatment of GSD is necessary. We describe an adolescent patient with GSD Ib in good metabolic 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 onset of unsteady gait, inability to write, and sore mouth. After an extensive work-up, the patient was found to have vitamin B12, folate, iron and other nutritional deficiencies, which explained his symptoms. The patient improved within 72h of initiation of total parenteral nutrition and therapeutic doses of deficient micronutrients, with a complete recovery in 2 months. Dietary restrictions, dependence on non-food products (e.g. cornstarch in GSD I), and social and developmental issues place individuals with metabolic disorders at a high risk for developing an array of nutritional deficiencies. This case highlights the importance of both close follow-up of the metabolic control and close monitoring of growth and nutritional intake in individuals with inborn errors of metabolism. This case also illustrates the importance of daily supplementation with appropriate multivitamins, calcium and other minerals needed to meet the Recommended Dietary Allowances (RDAs) in these patients.
Similar content being viewed by others
References
Bonilla MA, Dale D, Zeidler C, et al (1994) Long–term safety of treatment with recombinant human granulocyte colony stimulating factor (r–metHuG–CSF) in–patients with severe congenital neutropenias. Br J Haematol 88: 723–730.
Chen Y–T, Burchell A (1995) Glycogen storage diseases. In Scriver C, Beaudet A, Sly W and Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw–Hill, vol. 1, 935–965.
Chen Y–T, Cornblath M, Sidbury J (1984) Cornstarch therapy in type I glycogen storage disease. N Engl J Med 310: 171–175.
Chen Y–T, Leinhas J, Coleman R (1987) Prolongation of normoglycemia in patients with type I glycogen storage disease. J Pediatr 111: 567–570.
Chen Y–T, Bazzarre CH, Lee MM, et al (1993) Type I glycogen storage disease: nine years of management with cornstarch. Eur J Pediatr 152: S56–S59.
Daeschel IE, Janick LS, Kramish MJ, Coleman, RA (1983) Diet and growth of children with glycogen storage diseases types I and III. J Am Diet Assoc 3: 135–141.
Fernandes J, Leonard JV, Moses SW, et al (1988) Glycogen storage disease: recommendations for treatment. Eur J Pediatr 147: 226–228.
Folk CC, Greene HL (1984) Dietary management of type I glycogen storage disease. J Am Diet Assoc 84: 293–301.
Gerin I, Veiga–da–Cunha M, Younes A, et al (1997) Sequence of a putative glucose 6– phosphate translocase, mutated in glycogen storage disease type Ib. FEBS Lett 419: 235–238.
Goldberg T, Slonim A (1993) Nutrition therapy for hepatic glycogen storage diseases. J Am Diet Assoc 93: 1423–1430.
Greene HL, Slonim AE, O'Neill JA Jr, Burr IM (1976) Continuous nocturnal intragastric feeding for management of type I glycogen storage disease. N Engl J Med 294: 423–425.
Havel R, Calloway D, Gussow JD, et al (1989) Subcommittee on the 10th edition of the RDAs Food and Nutrition Board Commission on Life Sciences National Research Council. Recommended Dietary Allowances. National Academy Press: Washington, DC.
Hayde M, Widhalm K (1990) Effects of cornstarch treatment in very young children with type I glycogen storage disease. Eur J Pediatr 149: 630–633.
Johnson RK, Johnson DG, Wang MQ, et al (1994) Characterizing nutrient intakes of adolescents by sociodemographic factors. Soc Adolesc Med 15: 149–154.
Lei KJ, Shelly LL, Pan CJ, et al (1993) Mutations in the glucose–6–phosphatase gene that cause glycogen storage disease type 1a. Science 262: 580–583.
Munoz KA, Krebs–Smith SM, Ballard–Barbash R, et al (1997) Food intakes of US children and adolescents compared with recommendations. Pediatrics 100: 323–329.
Neumark–Sztainer D, Story M, Resnick MD, et al (1998) Lessons learned about adolescent nutrition from the Minnesota Adolescent Health Survey. J Am Diet Assoc 98: 1449–1456.
Park H, Kahler SG, Chen Y–T (1991) Brain abscess in glycogen storage disease type Ib. Acta Paediatr Scand 80: 1103–1106.
Schultz B, Bremer HJ (1995) Nutrient intake and food consumption of adolescents and young adults with phenylketonuria. Acta Paediatr 84: 743–748.
Subar A, Krebs–Smith S, Cook A, Kahle L (1998) Dietary sources of nutrients among US children, 1989–1991. Pediatrics 102: 913–923.
Vici C, Batruli, Mazziotta MRM, Sabetta G, (1990) Early introduction of uncooked cornstarch for the treatment of glycogen storage disease type I. Acta Paediatr Scand 79: 978–979.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Kishnani, P.S., Boney, A. & Chen, YT. Nutritional deficiencies in a patient with glycogen storage disease type Ib. J Inherit Metab Dis 22, 795–801 (1999). https://doi.org/10.1023/A:1005549823146
Issue Date:
DOI: https://doi.org/10.1023/A:1005549823146