Glycogen storage diseases: A primer for clinicians

Endocrinologist

Volumn 12, Issue 6, 2002, Pages 531-538

  Weinstein, David A ^a   Wolfsdorf, Joseph I ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALLOPURINOL; GEMFIBROZIL; GLUCOSE; GLUCOSE 6 PHOSPHATASE; GLYCOGEN DEBRANCHING ENZYME; GLYCOGEN PHOSPHORYLASE; GLYCOGEN SYNTHASE; GRANULOCYTE COLONY STIMULATING FACTOR; STARCH;

ANEMIA; CLINICAL FEATURE; DIET RESTRICTION; ENZYME DEFICIENCY; GENETIC DISORDER; GLOMERULOSCLEROSIS; GLYCOGEN METABOLISM; GLYCOGEN STORAGE DISEASE; GLYCOGEN STORAGE DISEASE TYPE 1; GLYCOGEN STORAGE DISEASE TYPE 3; GLYCOGEN STORAGE DISEASE TYPE 6; HEART DISEASE; HUMAN; HYPERLIPIDEMIA; HYPERURICEMIA; HYPOGLYCEMIA; LABORATORY TEST; LACTIC ACIDOSIS; LIVER ADENOMA; LIVER CELL CARCINOMA; NEUTROPENIA; PROTEIN DIET; REVIEW; STRESS; SURGERY; TUBE FEEDING;

EID: 0036847915     PISSN: 10512144     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019616-200211000-00010     Document Type: Review

References (28)

1. Haymond MW, Sunehag A: Controlling the sugar bowl: Regulation of glucose homeostasis in children. Endocrinol Metab Clin North Am 1999; 28: 663-94.
2. Aynsley-Green A, Williamson DH, Gitzelmann R: Hepatic glycogen synthetase deficiency. Definition of syndrome from metabolic and enzyme studies on a 9 year old girl. Arch Dis Child 1977; 52: 573-9.
3. Gitzelmann R, Spycher MA, Feit G, et al.: Liver glycogen synthetase deficiency: A rarely diagnosed entity. Eur J Pediatr 1996; 155: 561-7.
4. Orho M, Bosshard NU, Buist NR, et al.: Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0. J Clin Invest 1998; 102: 507-15.
5. Bachrach BE, Weinstein DA, Orho-Melander M, et al.: Glycogen synthase deficiency (glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: Report of three new mutations. J Pediatr 2002; 140: 781-3.
6. Lee DH, Chung MY, Lee JU, et al.: Changes of glucose transporters in the cerebral adaptation to hypoglycemia. Diabetes Res Clin Pract 2000; 47: 15-23.
7. Dykes JR, Spencer-Peet J.: Hepatic glycogen synthetase deficiency: Further studies on a family. Arch Dis Child 1972; 47: 558-63.
8. Wolfsdorf JI, Holm IA, Weinstein DA.: Glycogen storage diseases: Phenotypic, genetic, and biochemical characteristics, and therapy. Endocrinol Metab Clin North Am 1999; 28: 801-23.
9. Elpeleg ON.: The molecular background of glycogen metabolism disorders. J Pediatr Endocr Metab 1999; 12: 363-79.
10. Chen YT, Scheinman JI.: Hyperglycemia associated with lactic acidaemia in a renal allograft recipient with type I glycogen storage disease. J Inherit Metab Dis 1991; 14: 80-6.
11. Weinstein DA, Wolfsdorf JI.: Effect of continuous glucose therapy with uncooked cornstarch on the long-term clinical course of type la glycogen storage disease. Eur J Pediatr prepublished online July 31, 2002; DOI 10.1007/s00431-002-1000-2.
12. Labrune P, Trioche P, Duvaltier I, et al.: Hepatocellular adenomas in glycogen storage disease type I and III: A series of 43 patients and review of the literature. J Pediatr Gastroenterol Nutr 1997; 243: 276-9.
13. Chen Y-T, Coleman RA, Scheinman JI, et al.: Renal disease in type 1 glycogen storage disease. N Engl J Med 1988; 318: 7-11.
14. Chen Y-T, Scheiman JI, Park HK, et al.: Amelioration of proximal renal tubular dysfunction in type I glycogen storage disease with dietary therapy. N Engl J Med 1990; 323: 590-3.
15. Restaino I, Kaplan BS, Stanley C, et al: Nephrolithiasis, hypocitraturia, and a distal renal tubular acidification defect in type 1 glycogen storage disease. J Pediatr 1993; 122: 393-6.
16. Weinstein DA, Somers MJG, Wolfsdorf JI.: Decreased urinary citrate in type la glycogen storage disease. J Pediatr 2001; 138: 378-82.
17. Wolfsdorf JI, Laffel LMB, Crigler JF, Jr.: Metabolic control and renal dysfunction in type 1 glycogen storage disease. J Inherit Metab Dis 1997; 20: 559-68.
18. Ozen H, Ciliv G, Kocak N, et al: Short-term effect of captopril on microalbuminuria in children with glycogen storage disease type 1a. J Inherit Metab Dis 2000; 23: 459-63.
19. Weinstein DA, Roy CN, Fleming MD, et al.: Inappropriate expression of hepcidin is associated with iron refractory anemia: Implications for the anemia of chronic disease. Blood, 1st Ed, prepublished online June 28, 2002; DOI 10.1182/blood-2002-041260.
20. Lee PJ, Patel JS, Fewtrell M, et al.: Bone mineralisation in type 1 glycogen storage disease. Eur J Pediatr 1995; 154: 483-7.
21. Visser G, Rake JP, Fernandes J, et al.: Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type lb: Results of the European study on Glycogen Storage Disease Type I. J Pediatr 2000; 137: 187-91.
22. Rake JP, ten Berge AM, Visser G, et al.: Glycogen storage disease type 1a: Recent experience with mutation analysis, a summary of mutations reported in the literature, and a newly developed diagnostic flow chart. Eur J Pediatr 2000; 159: 322-30.
23. Coleman RA, Winter HS, Wolf B, et al.: Glycogen debranching enzyme deficiency: Long-term study of serum enzyme activities and clinical features. J Inherit Metab Dis 1992; 15: 869-81.
24. Lee PJ, Deanfield JE, Burch M, et al.: Comparison of the functional significance of left ventricular hypertrophy in hypertrophic cardiomyopathy and glycogenosis type III. Am J Cardiol 1997; 79: 834-8.
25. Gremse DA, Bucuvalas JC, Balisteri WF: Efficacy of cornstarch therapy in type III glycogen-storage disease. Am J Clin Nutr 1990; 52: 671-4.
26. Slonim AE, Coleman RA, Moses SW: Myopathy and growth failure in debrancher enzyme deficiency: Improvement with high-protein nocturnal enteral therapy. J Pediatr 1984; 105: 906-11.
27. Willems PJ, Gerver WJ, Berger R, et al.: The natural history of liver glycogenosis due to phosphorylase kinase deficiency: A longitudinal study of 41 patients. Eur J Pediatr 1990; 149: 268-271.
28. Nakai A, Shigematsu Y, Takano T, et al.: Uncooked cornstarch treatment for hepatic phosphorylase kinase deficiency. Eur J Pediatr 1994; 153: 581-3.