Cardiac involvement in glycogen storage disease type IV: Two cases and thetwo ends of a spectrum

Case Reports in Medicine

Volumn 2012, Issue , 2015, Pages

  Aksu, Tolga ^a,b   Colak, Ayse ^b   Tufekcioglu, Omac ^b   Supinski, Gerald S ^c  

^a Kocaeli Derince Education and Research Hospital   (Turkey)

^b Division of Internal Medicine   (Turkey)

^c NONE

Author keywords

[No Author keywords available]

Indexed keywords

AMYLASE; ENALAPRIL; FUROSEMIDE; GLUCOSE; GLYCOGEN; IMMUNOSUPPRESSIVE AGENT; METOPROLOL; SPIRONOLACTONE;

ADULT; ARTICLE; CARDIOMEGALY; CASE REPORT; CONGESTIVE CARDIOMYOPATHY; CRACKLE; DYSPNEA; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; ELECTRON MICROSCOPY; FATIGUE; FEMALE; FIBROSING ALVEOLITIS; FOLLOW UP; GLUCOSE BLOOD LEVEL; GLYCOGEN STORAGE DISEASE TYPE 4; HEART ATRIUM ENLARGEMENT; HEART CATHETERIZATION; HEART LEFT VENTRICLE HYPERTROPHY; HEART MUSCLE BIOPSY; HOSPITAL ADMISSION; HOSPITAL DISCHARGE; HUMAN; HUMAN TISSUE; HYPERTROPHIC CARDIOMYOPATHY; HYPOGLYCEMIA; IMMUNOSUPPRESSIVE TREATMENT; JAUNDICE; LEG EDEMA; LIVER BIOPSY; LIVER CIRRHOSIS; LIVER GRAFT REJECTION; LIVER TRANSPLANTATION; LIVING DONOR; PATIENT HISTORY OF THERAPY; PERIODIC ACID SCHIFF STAIN; PRIORITY JOURNAL; YOUNG ADULT;

EID: 84948584741     PISSN: 16879627     EISSN: 16879635     Source Type: Journal    
DOI: 10.1155/2012/764286     Document Type: Article

References (12)

1. D. H. Andersen, "Familial cirrhosis of the liver with storage of abnormal glycogen," Laboratory Investigation, vol. 5, no. 1, pp. 11-20, 1956.
2. B. I. Brown and D. H. Brown, "Lack of an alpha-1,4-glucan: Alpha-1,4-glucan 6-glycosyl transferase in a case of type IV glycogenosis," Proceedings of the National Academy of Sciences of the United States of America, vol. 56, no. 2, pp. 725-729, 1966.
3. A. McConkie-Rosell, C. Wilson, D. A. Piccoli et al., "Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease," Journal of Inherited Metabolic Disease, vol. 19, no. 1, pp. 51-58, 1996.
4. J. M. Schroder, R. May, Y. S. Shin, M. Sigmund, and S. Nase-Huppmeier, "Juvenile hereditary polyglucosan body disease with complete branching enzyme deficiency (type IV glycogenosis)," Acta Neuropathologica, vol. 85, no. 4, pp. 419-430, 1993.
5. S. Servidei, R. E. Riepe, and C. Langston, "Severe cardiopathy in branching enzyme deficiency," Journal of Pediatrics, vol. 111, no. 1, pp. 51-56, 1987.
6. S. W. Moses and R. Parvari, "The variable presentations of glycogen storage disease type IV: A review of clinical, enzymatic and molecular studies," CurrentMolecularMedicine, vol. 2, no. 2, pp. 177-188, 2002.
7. D. Matern, T. E. Starzl, W. Arnaout et al., "Liver transplantation for glycogen storage disease types I, III, and IV," European Journal of Pediatrics, vol. 158, no. 2, pp. S43-S48, 1999.
8. M. K. Davis and D. A. Weinstein, "Liver transplantation in children with glycogen storage disease: Controversies and evaluation of the risk/benefit of this procedure," Pediatric Transplantation, vol. 12, no. 2, pp. 137-145, 2008.
9. T. E. Starzl, A. J. Demetris, M. Trucco et al., "Chimerism after liver transplantation for type IV glycogen storage disease and type 1 Gaucher's disease," The New England Journal of Medicine, vol. 328, no. 11, pp. 745-749, 1993.
10. S. Nase, K. P. Kunze, M. Sigmund, J. M. Schroeder, Y. Shin, and P. Hanrath, "A new variant of type IV glycogenosis with primary cardiac manifestation and complete branching enzyme deficiency: In vivo detection by heartmuscle biopsy," European Heart Journal, vol. 16, no. 11, pp. 1698-1704, 1995.
11. R. Ewert, A. Gulijew, R.Wensel et al., "Glycogenosis type IV as a seldom cause of cardiomyopathy-report about a successful heart transplantation," Zeitschrift fur Kardiologie, vol. 88, no. 10, pp. 850-856, 1999.
12. I. Nishino, J. Fu, K. Tanji et al., "Primary LAMP-2 deficiency causes X-linked vacoular cardiomyopathy and myopathy (Danon disease)," Nature, vol. 406, no. 6798, pp. 906-910, 2000.