Advertisement

Journal of Inherited Metabolic Disease

, Volume 19, Issue 1, pp 51–58 | Cite as

Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease

  • A. McConkie-Rosell
  • C. Wilson
  • D. A. Piccoli
  • J. Boyle
  • T. De Clue
  • P. Kishnani
  • J.-J. Shen
  • A. Boney
  • B. Brown
  • Y. T. Chen
Article

Summary

The classic clinical presentation for type IV glycogen storage disease (branching enzyme deficiency, GSD IV) is hepatosplenomegaly with failure to thrive occurring in the first 18 months of life, followed by progressive liver failure and death by age 5 years. Although there have been two patients without apparent liver progression previously reported, no long-term follow-up clinical data have been available. We present here the clinical spectrum of the non-progressive liver form of GSD IV in four patients, and long-term follow-up of the oldest identified patients (ages 13 and 20 years). None has developed progressive liver cirrhosis, skeletal muscle, cardiac or neurological involvement, and none has been transplanted. Branching enzyme activity was also measured in cultured skin fibroblasts from patients with the classic liver progressive, the early neonatal fatal, and the non-progressive hepatic presentations of GSD IV. The residual branching enzyme activity in the patients without progression was not distinguishable from the other forms and could not be used to predict the clinical course. Our data indicate that GSD IV does not always necessitate hepatic transplantation and that caution should be used when counselling patients regarding the prognosis of GSD IV. Patients should be carefully monitored for evidence of progression before recommending liver transplantation.

Keywords

Liver Cirrhosis Glycogen Storage Disease Neurological Involvement Enzyme Deficiency Progressive Liver 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Bao Y, Kishnani P, Tang TT, Harris DJ, Chen Y-T (1994) Identification of mutations in type IV glycogen storage disease.Am J Hum Genet 55: A4.Google Scholar
  2. Brown BI, Brown DH (1989) Branching enzyme activity of cultured amniocytes and chorionic villi: prenatal testing for type IV glycogen storage disease.Am J Hum Genet 44: 378–381.Google Scholar
  3. Brown DH, Brown BI (1983) Studies of the residual glycogen branching enzyme activity present in human skin fibroblasts from patients with type IV glycogen storage disease.Biochem Biophys Res Commun 111: 636–643.Google Scholar
  4. Bruno C, Servidei S, Shanske S, et al (1993) Glycogen branching enzyme deficiency in adult polyglucosan body disease.Ann Neurol 33: 88–93.Google Scholar
  5. Chen YT, Burchell A (1995) Glycogen storage diseases. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds.The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 935–965.Google Scholar
  6. Dhawan A, Tan KC, Portmann B, Mowat AP (1994) Glycogenosis type IV: liver transplant at 12 years.Arch Dis Child 71: 450–451.Google Scholar
  7. Greene HL, Brown BI, McClenathan DT, Agostini RM, Taylor SR (1988) A new variant of type IV glycogenosis: deficiency of branching enzyme activity without apparent progressive liver disease.Hepatology 8: 302–306.Google Scholar
  8. Guerra AS, van Diggelen OP, Carneiro F, Tsou RM, Simoes S, Santos NT (1986) A juvenile variant of glycogenosis IV (Andersen disease).Eur J Pediatr 145: 179–181.Google Scholar
  9. Herrick MK, Twiss JL, Vladutic GD, Glassocck GF, Horoupian DS (1994) Concomitant branching enzyme and phosphorylase deficiencies. An unusual glycogenosis with extensive neuronal polyglucosan storage.J Neuropathol Exp Neurol 53: 239–246.Google Scholar
  10. Levin B, Burgess EA, Mortimer PE (1968) Glycogen storage disease type IV, amylopectinosis.Arch Dis Child 43: 548.Google Scholar
  11. Lossos A, Barash V, Soffer D, et al (1991) Hereditary branching enzyme dysfunction in adult polyglucosan body disease: a possible metabolic cause in two patients.Ann Neurol 30: 655–662.Google Scholar
  12. Reusche E, Aksu F, Goebell HH, Shin YS, Yokota T, Reichmann H (1992) A mild juvenile variant of type IV glycogenosis.Brain Dev 14: 36–43.Google Scholar
  13. Schroder JM, May R, Shin YS, Sigmund M, Nase-Huppmeier S (1993) Juvenile hereditary polyglucosan body disease with complete branching enzyme deficiency (type IV glycogenosis).Acta Neuropathol 85: 419–430.Google Scholar
  14. Selby R, Starzl TE, Yunis E, Brown BI, Kendall RS, Tzakis A (1991) Liver transplantation for type IV glycogen storage disease.N Engl J Med 324: 39–42.Google Scholar
  15. Servidei S, Riepe RE, Langston C, et al (1987) Severe cardiopathy in branching enzyme deficiency.J Pediatr 111: 51–56.Google Scholar
  16. Tang TT, Segura AD, Chen YT, et al (1994) Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis.Acta Neuropathol 87: 531–536.Google Scholar
  17. Thon VJ, Khalil M, Cannon JF (1993) Isolation of human glycogen branching enzyme cDNAs by screening complementation in yeast.J Biol Chem 268: 7509–7513.Google Scholar
  18. van Noort G, Straks W, van Diggelen OP, Hennekam RCM (1993) A congenital variant of glycogenesis type IV.Pediatr Pathol 13: 685–698.Google Scholar
  19. Zellweger H, Mueller S, Ionasescu V, Schochet SS, McCormick WF (1972) Glycogenesis IV: a new cause of infantile hypotonia.J Pediatr 80: 842–844.Google Scholar

Copyright information

© SSIEM and Kluwer Academic Publishers 1996

Authors and Affiliations

  • A. McConkie-Rosell
    • 1
  • C. Wilson
    • 2
  • D. A. Piccoli
    • 3
  • J. Boyle
    • 4
  • T. De Clue
    • 5
  • P. Kishnani
    • 1
  • J.-J. Shen
    • 1
  • A. Boney
    • 6
  • B. Brown
    • 7
  • Y. T. Chen
    • 1
  1. 1.Division of Medical Genetics, Department of PediatricsDuke University Medical CenterDurham
  2. 2.Pediatric Gastroenterology and NutritionKapiolani Medical Center for Women and ChildrenHonolulu
  3. 3.Division of Gastroenterology and NutritionChildren's Hospital of PhiladelphiaPhiladelphia
  4. 4.Division of Pediatric Gastroenterology and NutritionRainbow Babies and Children's HospitalCleveland
  5. 5.University of South FloridaTampa
  6. 6.Rankin Clinical Research UnitDuke University Medical CenterDurham
  7. 7.Washington University School of MedicineSt. LouisUSA

Personalised recommendations