Skeletal and cardiac muscle involvement in children with glycogen storage disease type III

European Journal of Pediatrics

Volumn 174, Issue 11, 2015, Pages 1545-1548

  Mogahed, Engy A ^a   Girgis, Marian Y ^a   Sobhy, Rodina ^a   Elhabashy, Hala ^a   Abdelaziz, Osama M ^a   El Karaksy, Hanaa ^a  

^a CAIRO UNIVERSITY   (Egypt)

Author keywords

Cardiac muscle involvement; Cardiomyopathy; Children; CPK; Egypt; GSD III; Myopathy; Skeletal muscle involvement

Indexed keywords

CREATINE KINASE;

ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL EXAMINATION; CONTROLLED STUDY; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAM; ELECTROMYOGRAPHY; ENZYMATIC ASSAY; FEMALE; GLYCOGEN STORAGE DISEASE TYPE 3; HEART LEFT VENTRICLE HYPERTROPHY; HEART MUSCLE; HUMAN; INFORMED CONSENT; MALE; NERVE CONDUCTION VELOCITY; PRIORITY JOURNAL; SKELETAL MUSCLE; CARDIAC MUSCLE; COMPLICATION; CROSS-SECTIONAL STUDY; EGYPT; ELECTROCARDIOGRAPHY; METABOLISM; MUSCULAR DISEASES; PATHOLOGY; PRESCHOOL CHILD;

CHILD; CHILD, PRESCHOOL; CREATINE KINASE; CROSS-SECTIONAL STUDIES; ECHOCARDIOGRAPHY; EGYPT; ELECTROCARDIOGRAPHY; ELECTROMYOGRAPHY; FEMALE; GLYCOGEN STORAGE DISEASE TYPE III; HUMANS; MALE; MUSCLE, SKELETAL; MUSCULAR DISEASES; MYOCARDIUM;

EID: 84945492644     PISSN: 03406199     EISSN: 14321076     Source Type: Journal    
DOI: 10.1007/s00431-015-2546-0     Document Type: Article

References (12)

1. Akazawa H, Kuroda T, Kim S, Mito H, Kojo T, Shimada K (1997) Specific heart muscle disease associated with glycogen storage disease type III: Clinical similarity to the dilated phase of hypertrophic cardiomyopathy. Eur Heart J 18:532–533
2. Austin SL, Proia AD, Spencer-Manzon MJ, Butany J, Wechsler SB, Kishnani PS (2012) Cardiac pathology in glycogen storage disease type III. JIND Rep 118:65–72
3. Chen YT, Kishnani PS, Leonard JV, Deanfield J (2009) Glycogen storage diseases. In: Valle D, Beaudet A, Vogelstein B et al (eds) Scriver’s online metabolic & molecular bases of inherited disease. McGraw-Hill, New York
4. Coleman RA, Winter HS, Wolf B, Chen YT (1992) Glycogen debranching enzyme deficiency: long-term study of serum enzyme activities and clinical features. J Inherit Metab Dis 15:869–881
5. Coleman RA, Winter HS, Wolf B, Gilchrist JM, Chen YT (1992) Glycogen storage disease type III (glycogen debranching enzyme deficiency): Correlation of biochemical defects with myopathy and cardiomyopathy. Ann Intern Med 116:896–900
6. Hobson-Webb LD, Austin SL, Bali DS, Kishnani PS (2010) The electrodiagnostic characteristics of glycogen storage disease type III. Genet Med 12:440–445
7. Miller CG, Alleyne GA, Brooks SEH (1972) Gross cardiac involvement in glycogen storage disease type 3. Br Heart J 34:862–864
8. Momoi T, Sano H, Yamanaka C, Sasaki H, Mikawa H (1992) Glycogen storage disease type III with muscle involvement: Reappraisal of phenotypic variability and prognosis. Am J Med Genet 42:696–699
9. Olson LJ, Reeder GS, Noller KL, Edwards WD, Howell RR, Michels VV (1984) Cardiac involvement in glycogen storage disease III: Morphologic and biochemical characterization with endomyocardial biopsy. Am J Cardiol 53:980–981
10. Preisler N, Pradel A, Husu E, Madsen KL, Becquemin MH, Mollet A, Labrune P, Petit F, Hogrel JY, Jardel C, Maillot F, Vissing J, Laforêt P (2013) Exercise intolerance in glycogen storage disease type III: Weakness or energy deficiency? Mol Genet Metab 109:14–20
11. Seifert BL, Snyder MS, Klein AA, O'Loughlin JE, Magid MS, Engle MA (1992) Development of obstruction to ventricular outflow and impairment of inflow in glycogen storage disease of the heart: serial echocardiographic studies from birth to death at 6 months. Am Heart J 123:239–242
12. Vertilus SM, Austin SL, Foster KS, Boyette KE, Bali D, Li JS, Kishnani PS, Wechsler SB (2010) Echocardiographic manifestations of glycogen storage disease III: Increase in wall thickness and left ventricular mass over time. Genet Med 12:413–423