eMedicine Specialties > Endocrinology > Metabolic Disorders
Glycogen Storage Disease, Type Ia: Follow-up
Updated: Nov 5, 2009
Follow-up
Deterrence/Prevention
Early diet therapy may help prevent hepatic disease, including hepatocellular carcinoma.
Complications
- Hypoglycemic seizures
- Nephropathy with renal failure
- Hepatic adenoma with potential malignant transformation
Prognosis
- Von Gierke disease is not curable.
Patient Education
- Educate patients in the recognition of hypoglycemia and its appropriate treatment.
Miscellaneous
Medicolegal Pitfalls
- Parents must understand the consequences of hypoglycemia, including death if prolonged.
- Due to the possibility of hepatic adenomas and carcinomas, close follow-up is indicated.
More on Glycogen Storage Disease, Type Ia |
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| Treatment & Medication: Glycogen Storage Disease, Type Ia |
Follow-up: Glycogen Storage Disease, Type Ia |
| Multimedia: Glycogen Storage Disease, Type Ia |
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References
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. May 2009;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. Jun 2008;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. Sep 2002;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. Jul 2009;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. Oct 1999;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. Apr 2009;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). Jan 2000;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. Jan 14 2000;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. Nov 1999;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. Dec 1999;158 Suppl 2:S43-8. [Medline].
Amato AA. Acid maltase deficiency and related myopathies. Neurol Clin. Feb 2000;18(1):151-65. [Medline].
Applegarth DA, Toone JR, Lowry RB. Incidence of inborn errors of metabolism in British Columbia, 1969-1996. Pediatrics. Jan 2000;105(1):e10. [Medline].
Chen Y. Glycogen Storage Diseases. In: 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. In: 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. Jun 2007;30(3):406. [Medline].
Goldberg T, Slonim AE. Nutrition therapy for hepatic glycogen storage diseases. J Am Diet Assoc. Dec 1993;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. Sep 17 1999;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. Nov 1999;105(5):515-7. [Medline].
Moses SW. Historical highlights and unsolved problems in glycogen storage disease type 1. Eur J Pediatr. Oct 2002;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. Aug 1 1998;102(3):507-15. [Medline].
Pears JS, Jung RT, Hopwood D. Glycogen storage disease diagnosed in adults. Q J Med. Mar 1992;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. Mar 1995;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. Dec 27 1982;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. Sep 1999;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. Dec 1999;28(4):801-23. [Medline].
Yang Chou J, Mansfield BC. Molecular Genetics of Type 1 Glycogen Storage Diseases. Trends Endocrinol Metab. Apr 1999;10(3):104-113. [Medline].
Further Reading
Clinical guidelines:
AASLD practice guidelines: evaluation of the patient for liver transplantation. American Association for the Study of Liver Diseases - Private Nonprofit Research Organization. 2000 Jan (revised 2005 Jun). 26 pages. NGC:004333 :
Clinical trials:
Growth and Development Study of Myozyme
Pompe Disease Registry
Pompe Lactation Sub-Registry
Pompe Pregnancy Sub-Registry
Pompe Prevalence Study in Patients With Muscle Weakness Without Diagnosis (POPS)
Keywords
glycogen storage disease, von Gierke's disease, gluconeogenesis, glucose 6 phosphatase, glucose 6 phosphatase deficiency, G6P, von Gierke disease, glycogen storage disease type Ia, GSD type Ia, hepatonephromegaly glycogenica
Follow-up: Glycogen Storage Disease, Type Ia