Type Ia Glycogen Storage Disease Treatment & Management
- Author: Wayne E Anderson, DO, FAHS, FAAN; Chief Editor: George T Griffing, MD more...
See the list below:
- In general, no specific treatment exists to cure glycogen storage diseases (GSDs).
- In some cases, diet therapy is helpful. Meticulous adherence to a dietary regimen may reduce liver size, prevent hypoglycemia, allow for reduction in symptoms, and allow for growth and development.
- Zingone and colleagues demonstrated the abolition of the murine clinical manifestations of von Gierke disease with a recombinant adenoviral vector. These findings suggest that corrective gene therapy of GSDs may be possible for humans.
- An encouraging study by Bijvoet and colleagues provides evidence of successful enzyme replacement for the mouse model of Pompe disease, which may lead to therapies for other enzyme deficiencies.
Liver transplantation may be indicated for patients with hepatic malignancy. Whether transplantation prevents further complications remains unclear, although a study by Matern and colleagues demonstrated correction of metabolic abnormalities after transplantation.
See the list below:
- Due to the progressive kidney dysfunction, referral to a nephrologist may be appropriate.
- Consultation with a hepatologist may be necessary for management of liver dysfunction.
See the list below:
- Growing evidence indicates that a high-protein diet may provide increased muscle function in cases of weakness or exercise intolerance. Evidence also exists that indicates a high-protein diet may slow or arrest disease progression.
- Prevention of hypoglycemia in affected infants can be challenging. Nasogastric drip-feeding has allowed continuous feeding during the night. Uncooked starch may be used in older children.
Araoka T, Takeoka H, Abe H, Kishi S, Araki M, Nishioka K, et al. Early diagnosis and treatment may prevent the development of complications in an adult patient with glycogen storage disease type Ia. Intern Med. 2010. 49(16):1787-92. [Medline].
Jones JG, Garcia P, Barosa C, et al. Hepatic anaplerotic outflow fluxes are redirected from gluconeogenesis to lactate synthesis in patients with Type 1a glycogen storage disease. Metab Eng. 2009 May. 11(3):155-62. [Medline].
Bandsma RH, Prinsen BH, van Der Velden Mde S, et al. Increased de novo lipogenesis and delayed conversion of large VLDL into intermediate density lipoprotein particles contribute to hyperlipidemia in glycogen storage disease type 1a. Pediatr Res. 2008 Jun. 63(6):702-7. [Medline].
Schwahn B, Rauch F, Wendel U, Schönau E. Low bone mass in glycogen storage disease type 1 is associated with reduced muscle force and poor metabolic control. J Pediatr. 2002 Sep. 141(3):350-6. [Medline].
Kalkan Ucar S, Coker M, et al. A monocentric pilot study of an antioxidative defense and hsCRP in pediatric patients with glycogen storage disease type IA and III. Nutr Metab Cardiovasc Dis. 2009 Jul. 19(6):383-90. [Medline].
Kishnani PS, Boney A, Chen YT. Nutritional deficiencies in a patient with glycogen storage disease type Ib. J Inherit Metab Dis. 1999 Oct. 22(7):795-801. [Medline].
Nguyen AT, Bressenot A, Manole S, et al. Contrast-enhanced ultrasonography in patients with glycogen storage disease type Ia and adenomas. J Ultrasound Med. 2009 Apr. 28(4):497-505. [Medline].
Seydewitz HH, Matern D. Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection rate and 5 novel mutations. Hum Mutat (Online). 2000 Jan. 15(1):115-6. [Medline].
Zingone A, Hiraiwa H, Pan CJ. Correction of glycogen storage disease type 1a in a mouse model by gene therapy. J Biol Chem. 2000 Jan 14. 275(2):828-32. [Medline].
Bijvoet AG, Van Hirtum H, Vermey M. Pathological features of glycogen storage disease type II highlighted in the knockout mouse model. J Pathol. 1999 Nov. 189(3):416-24. [Medline].
Matern D, Starzl TE, Arnaout W. Liver transplantation for glycogen storage disease types I, III, and IV. Eur J Pediatr. 1999 Dec. 158 Suppl 2:S43-8. [Medline].
Amato AA. Acid maltase deficiency and related myopathies. Neurol Clin. 2000 Feb. 18(1):151-65. [Medline].
Applegarth DA, Toone JR, Lowry RB. Incidence of inborn errors of metabolism in British Columbia, 1969-1996. Pediatrics. 2000 Jan. 105(1):e10. [Medline].
Chen Y. Glycogen Storage Diseases. Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Basis of Inherited Disease. 8th ed. New York, NY: McGraw-Hill; 2001. 1521-51.
Fernandes J, Smit G. The Glycogen Storage Diseases. Fernandes J, Saudubray JM, Van Den Berghe G, eds. Inborn Metabolic Diseases: Diagnosis and Treatment. 3rd ed. New York, NY: Springer-Verlag; 2000. 87-101.
Geberhiwot T, Alger S, McKiernan P, Packard C, Caslake M, Elias E. Serum lipid and lipoprotein profile of patients with glycogen storage disease types I, III and IX. J Inherit Metab Dis. 2007 Jun. 30(3):406. [Medline].
Goldberg T, Slonim AE. Nutrition therapy for hepatic glycogen storage diseases. J Am Diet Assoc. 1993 Dec. 93(12):1423-30. [Medline].
Hou DC, Kure S, Suzuki Y. Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene. Am J Med Genet. 1999 Sep 17. 86(3):253-7. [Medline].
Lin B, Hiraiwa H, Pan CJ. Type-1c glycogen storage disease is not caused by mutations in the glucose-6-phosphate transporter gene. Hum Genet. 1999 Nov. 105(5):515-7. [Medline].
Moses SW. Historical highlights and unsolved problems in glycogen storage disease type 1. Eur J Pediatr. 2002 Oct. 161 Suppl 1:S2-9. [Medline].
Orho M, Bosshard NU, Buist NR. Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0. J Clin Invest. 1998 Aug 1. 102(3):507-15. [Medline].
Pears JS, Jung RT, Hopwood D. Glycogen storage disease diagnosed in adults. Q J Med. 1992 Mar. 82(299):207-22. [Medline].
Reitsma-Bierens WC. Renal complications in glycogen storage disease type I. Eur J Pediatr. 1993. 152 Suppl 1:S60-2. [Medline].
Salapata Y, Laskaris G, Drogari E. Oral manifestations in glycogen storage disease type 1b. J Oral Pathol Med. 1995 Mar. 24(3):136-9. [Medline].
Smit GP, Fernandes J, Leonard JV. The long-term outcome of patients with glycogen storage diseases. J Inherit Metab Dis. 1990. 13(4):411-8. [Medline].
Stevens AN, Iles RA, Morris PG. Detection of glycogen in a glycogen storage disease by 13C nuclear magnetic resonance. FEBS Lett. 1982 Dec 27. 150(2):489-93. [Medline].
Veiga-da-Cunha M, Gerin I, Chen YT. The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a. Eur J Hum Genet. 1999 Sep. 7(6):717-23. [Medline].
Wolfsdorf JI, Holm IA, Weinstein DA. Glycogen storage diseases. Phenotypic, genetic, and biochemical characteristics, and therapy. Endocrinol Metab Clin North Am. 1999 Dec. 28(4):801-23. [Medline].
Yang Chou J, Mansfield BC. Molecular Genetics of Type 1 Glycogen Storage Diseases. Trends Endocrinol Metab. 1999 Apr. 10(3):104-113. [Medline].