Seven cases of Pompe disease from Greece

• Published in: Journal of inherited metabolic disease Vol. 29; no. 4; pp. 556 - 563
• Main Authors: Kroos, M., Manta, P., Mavridou, I., Muntoni, F., Halley, D., Helm, R., Zaifeiriou, D., Ploeg, A., Reuser, A., Michelakakis, H.
• Format: Journal Article
• Language: English
• Published: Dordrecht Kluwer Academic Publishers 01.08.2006; Springer; Blackwell Publishing Ltd
• Subjects: Adolescent; Adult; alpha-Glucosidases - deficiency; Alternative Splicing; Automation; Biological and medical sciences; Carbohydrates (enzymatic deficiencies). Glycogenosis; Child; Creatine Kinase - metabolism; DNA Primers - chemistry; Errors of metabolism; Fibroblasts - metabolism; General aspects; Glucan 1,4-alpha-Glucosidase - metabolism; Glycogen Storage Disease Type II - diagnosis; Greece; Humans; Medical genetics; Medical sciences; Metabolic diseases; Middle Aged; Skin - cytology; Greece; Europe; Nutrition; Glycogenosis II Pompe; Genetics; Metabolic diseases; Carbohydrate; Enzymopathy; Genetic disease

Summary We present seven cases of Pompe disease (McKusick 232300; glycogen storage disease type II; acid maltase deficiency) from Greece. The onset of symptoms varied from early childhood to late adulthood, and the patients had quite variable duration of disease. All but one of them had muscle weakn...