Obesity and reversed growth retardation in a child with type Ia glycogen storage disease

Journal of Pediatric Endocrinology and Metabolism

Volumn 23, Issue 5, 2010, Pages 507-512

  Karnsakul, Wikrom ^a,b   Gillespie, Stacey ^b   Skitarelic, Kathryn ^c   Hummel, Marybeth ^b  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b WEST VIRGINIA UNIVERSITY   (United States)

^c Pathology   (United States)

Author keywords

Glycogen storage disease type 1; Hepatic steatosis; Insulin resistance; Obesity; Reversed growth retardation

Indexed keywords

CHOLESTEROL; GLUCOSE; GLUCOSE 6 PHOSPHATASE; LACTIC ACID; TRIACYLGLYCEROL;

ADOLESCENT; ARTICLE; CASE REPORT; CHOLESTEROL BLOOD LEVEL; CLINICAL EVALUATION; CLINICAL FEATURE; DIET THERAPY; DISEASE ASSOCIATION; ECHOGRAPHY; FAILURE TO THRIVE; FATTY LIVER; GENE MUTATION; GENETIC ANALYSIS; GLUCOSE BLOOD LEVEL; GLYCOGEN STORAGE DISEASE TYPE 1; GLYCOGEN STORAGE DISEASE TYPE 1A; GROWTH RETARDATION; HEPATOMEGALY; HISTOPATHOLOGY; HUMAN; HYPERURICEMIA; HYPOGLYCEMIA; INSULIN RESISTANCE; LACTATE BLOOD LEVEL; LACTIC ACIDOSIS; LIPID ANALYSIS; LIVER BIOPSY; MALE; METABOLIC SYNDROME X; OBESITY; PHYSICAL EXAMINATION; TRIACYLGLYCEROL BLOOD LEVEL; TUBE FEEDING;

EID: 77954474788     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/jpem.2010.083     Document Type: Article

References (15)

1. Yang Chou J, Mansfield BC. Molecular Genetics of Type 1 Glycogen Storage Diseases. Trends Endocrinol Metab. 1999;10(3):104-113. (Pubitemid 29283893)
2. Blackett PR. Secondary metabolic changes in von Gierke's disease (Type I glycogen storage disease). Ann Clin Lab Sci. 1982;12(5):424-430.
3. Janecke AR, Mayatepek E, Utermann G. Molecular genetics of type 1 glycogen storage disease. Mol Genet Metab. 2001;73(2):117-125. (Pubitemid 32550149)
4. Shieh JJ, Terzioglu M, Hiraiwa H, Marsh J, Pan CJ, Chen LY, Chou JY. The molecular basis of glycogen storage disease type 1a: structure and function analysis of mutations in glucose-6-phosphatase. J Biol Chem. 2002;277(7):5047-5053. (Pubitemid 34968545)
5. Weinstein DA, Wolfsdorf JI. Effect of continuous glucose therapy with uncooked cornstarch on the long-term clinical course of type 1a glycogen storage disease. Eur J Pediatr. 2002;161 Suppl 1:S35-9.
6. Chou JY, Matern D, Mansfield BC, Chen YT. Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex. Curr Mol Med. 2002;2(2):121-143. (Pubitemid 34649836)
7. Fernandes J, Smit JPA. The glycogen-storage diseases. In: Fernandes J, Saudubray JM, Van den Berghe G, eds. Inborn metabolic diseases - Diagnosis and treatment. 3rd ed. Berlin: Springer-Verlag; 2000:89.
8. Pozzato C, Dall'asta C, Radaelli G, Torcoletti M, Formenti A, Riva E, Cornalba G, Pontiroli AE. Usefulness of chemical-shift MRI in discriminating increased liver echogenicity in glycogenosis. Dig Liver Dis. 2007;39(11):1018-1023.
9. Tamaki M, Tamura Y, Ogihara T, Shimizu T, Uchino H, Hirose T, Kawamori R, Watada H. Lack of evident atherosclerosis despite multiple risk factors in glycogen storage disease type la with hyperadiponectinemia. Metabolism. 2007;56(10):1402-1404.
10. Bandsma RH, Rake JP, Visser G, Neese RA, Hellerstein MK, van Duyvenvoorde W, Princen HM, Stellaard F, Smit GP, Kuipers F. Increased lipogenesis and resistance of lipoproteins to oxidative modification in two patients with glycogen storage disease type 1a. J Pediatr. 2002;140(2):256-260.
11. Levy E, Thibault LA, Roy CC, Bendayan M, Lepage G, Letarte J. Circulating lipids and lipoproteins in glycogen storage disease type I with nocturnal intragastric feeding. J Lipid Res. 1988;29(2):215-226. (Pubitemid 18069279)
12. Brudasca I, Cucuianu M. Pathogenic role of abnormal fatty acids and adipokines in the portal flow. Relevance for metabolic syndrome, hepatic steatosis and steatohepatitis. Rom J Intern Med. 2007;45(2):149-157.
13. Chatila R, West AB. Hepatomegaly and abnormal liver tests due to glycogenosis in adults with diabetes. Medicine (Baltimore). 1996;75(6):327-333. (Pubitemid 27009234)
14. Kalhan SC, Gilfillan C, Tserng KY, Savin SM. Glucose production in type I glycogen storage disease. J Pediatr. 1982;101(1):159-160.
15. Lee PJ, Patel A, Hindmarsh PC, Mowat AP, Leonard JV. The prevalence of polycystic ovaries in the hepatic glycogen storage diseases: its association with hyperinsulinism. Clin Endocrinol (Oxf). 1995;42(6):601-606.