JUVENILE GLYCOGEN STORAGE DISEASE TYPE II
\d͡ʒˈuːvənˌa͡ɪl ɡlˈa͡ɪkəd͡ʒən stˈɔːɹɪd͡ʒ dɪzˈiːz tˈa͡ɪp ɹˌə͡ʊmən tˈuː], \dʒˈuːvənˌaɪl ɡlˈaɪkədʒən stˈɔːɹɪdʒ dɪzˈiːz tˈaɪp ɹˌəʊmən tˈuː], \dʒ_ˈuː_v_ə_n_ˌaɪ_l ɡ_l_ˈaɪ_k_ə_dʒ_ə_n s_t_ˈɔː_ɹ_ɪ_dʒ d_ɪ_z_ˈiː_z t_ˈaɪ_p ɹ_ˌəʊ_m_ə_n_ t_ˈuː]\
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An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE DEFICIENCY. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes,Textbook of Child Neurology, 5th ed, pp73-4)
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Platidiam
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