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Summary
GLYCOGEN STORAGE DISEASE TYPE II. JUVENILE ONSET
GSD2 GLYCOGENOSIS, TYPE IIB
232300
OMIM = Online Medalian Inheritance of Men
420429
17q25.3
rare (1:100000 )
autosomal recessive
1) infantile onset: cardiomegaly, progressive weakness, macroglossia
2) juvenile onset: (cardiac involvement), slower progression 3) adult onset: slowly progressive myopathy
symptoms
cardiomyopathy
hepatomegaly (large liver)
hypotonia
lordosis
onset, adulthood
onset, childhood
onset, infancy
pneumonia
progressive muscle defect
respiratory insufficiency
laboratory finding
alpha-Glucosidase1.505.00 100.00% of normalfibroblasts
alpha-Glucosidase2.408.10 100.00% of normalmuscle
alpha-1,4-Glucosidase
Literature
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996