title: [Pompe's disease. Part I: pathogenesis and clinical features].
abstract: Pompe's disease is an ultra-orphan disease caused by the deficiency of lysosomal alpha-glucosidase. At present, it is the only inherited muscle disorder, which can be treated by replacement of the enzyme. According to the natural course, early infantile and late childhood-juvenile-adult cases are known. Respiratory insufficiency, cardiomyopathy, and muscle hypotonia are cardinal symptoms/signs in infantile Pompe's disease, while cardiomyopathy is absent in adult-onset cases. CK levels are always elevated in the sera of infantile patients. Hip-girdle dystrophy and orthopnoe should alert suspicion in adult patients. Diagnosis is established by decreased activity of the enzyme or mutational analysis. Muscle biopsy can be misleading in adult cases due to absence of glycogen in the examined specimen. In this review, we also discuss our experiences obtained by the treatment of three patients.
authors.affiliation: Pécsi Tudományegyetem, Neurológiai Klinika. zsolt.illes@aok.pte.hu
authors.forename: Zsolt
authors.initials: Z
authors.lastname: Illés
authors.forename: Anita
authors.initials: A
authors.lastname: Trauninger
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000818:Animals; D001706:Biopsy; D009202:Cardiomyopathies / Q000209:etiology; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D004195:Disease Models, Animal; D006009:Glycogen Storage Disease Type II / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology*; D006334:Heart Function Tests; D006801:Humans; D007223:Infant; D018485:Muscle Fibers, Skeletal / Q000201:enzymology / Q000473:pathology; D009123:Muscle Hypotonia / Q000201:enzymology / Q000209:etiology / Q000473:pathology; D010641:Phenotype; D017286:Polysomnography; D012129:Respiratory Function Tests; D012131:Respiratory Insufficiency / Q000209:etiology; D000520:alpha-Glucosidases / Q000008:administration & dosage / Q000172:deficiency* / Q000235:genetics
chemical_list: D000520:alpha-Glucosidases