Pompe’s disease is caused by a congenital enzyme deficiency in the body<\/p>\n
Pathophysiology<\/strong><\/p>\n 1)<\/strong> abnormal buildup of glycogen in the heart, liver, and skeletal muscles 2)<\/strong> cause is deficiency of alpha-1,4-glucosidase (acid maltase)<\/p>\n Signs and Symptoms<\/strong><\/p>\n 1)<\/strong> generalized hypotonia 2)<\/strong> decreased deep tendon reflexes 3)<\/strong> cardiomegaly 4)<\/strong> macroglossia (enlarged tongue) 5)<\/strong> death is usually caused by cardiac failure by age 2 years in the most common (infantile) variant 6)<\/strong> juvenile and adult variants have progressive cardiac, skeletal, and respiratory muscle weakness<\/p>\n Characteristic Test Findings<\/strong><\/p>\n Laboratory<\/em> – moderately increased serum CK<\/p>\n Histology\/Gross Pathology<\/strong><\/p>\n Liver<\/strong> – 1)<\/strong> hepatocytes are moderately enlarged with clear areas composed of lysosomes engorged with glycogen Muscle<\/em> – 2)<\/strong> striking amounts of membrane-bound glycogen present in lysosomes 3)<\/strong> focal loss of myofibrils<\/p>\n Biochemistry<\/strong><\/p>\n 1)<\/strong> alpha-1,4-glucosidase is a lysosomal enzyme 2)<\/strong> buildup of glycogen occurs in the lysosomes because the alpha-1,4 links connecting the long chain of glucose molecules cannot be broken due to absence of enzyme 3)<\/strong> death results from buildup of glycogen<\/p>\n Inheritance\/Epidemiology<\/strong><\/p>\n 1)<\/strong> autosomal recessive 2)<\/strong> defect is on chromosome 17q23 3)<\/strong> juvenile- and adult-onset variants have a better prognosis but cardiomyopathy is relentless and death eventually occurs by cardiac failure<\/p>\n Tips for USMLE<\/strong><\/p>\n 1)<\/strong> clinically resembles patients with Werdnig-Hoffman disease 2)<\/strong> hypoglycemia does not occur in this disease<\/p>\n","protected":false},"excerpt":{"rendered":" Pompe’s disease is caused by a congenital enzyme deficiency in the body Pathophysiology 1) abnormal buildup of glycogen in the heart, liver, and skeletal muscles 2) cause is deficiency of alpha-1,4-glucosidase (acid maltase) Signs and Symptoms 1) generalized hypotonia 2) decreased deep tendon reflexes 3) cardiomegaly 4) macroglossia (enlarged tongue) 5) death is usually caused […]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_exactmetrics_skip_tracking":false,"_exactmetrics_sitenote_active":false,"_exactmetrics_sitenote_note":"","_exactmetrics_sitenote_category":0,"_genesis_hide_title":false,"_genesis_hide_breadcrumbs":false,"_genesis_hide_singular_image":false,"_genesis_hide_footer_widgets":false,"_genesis_custom_body_class":"","_genesis_custom_post_class":"","_genesis_layout":"","footnotes":""},"categories":[63],"tags":[348,351,347,350,349,352],"yoast_head":"\n