how to cite this article: tonekaboni s.h. juvenile pompe. iran j child neurol autumn 2012; 6:4 (suppl. 1):10.   pls see pdf.

Pompe's disease (acid maltase deficiency) classically affects infants and children, with a few sporadic cases occurring in adults. An adult patient initially have progressive muscular weakness, exertional dyspnea, diaphragmatic paralysis, and objective evidence of restrictive respiratory disease. Muscle biopsy established the diagnosis of acid maltase deficiency. The patient's brother had died ...

how to cite this article: nilipour y. lysosomal myopathies. iran j child neurol autumn 2012; 6:4 (suppl. 1):11. pls see pdf.

Mutation in genes encoding for proteins involved in glycogen synthesis, degradation or regulation results in various inborn errors of glycogen metabolism. The disorders that result in abnormal storage of glycogen are known as glycogen storage diseases (GSD). We report a rare and interesting case of a young boy who presented with generalized weakness and reduced muscle bulk since childhood. He w...

The clinical and laboratory findings of a patient with juvenile acid maltase deficiency are presented. The patient died from respiratory muscle weakness at age 31 years. Muscle biopsy shortly prior to his death showed remarkable vacuolation affecting exclusively type I fibres and mild myopathic changes of both types of muscle fibres, while the muscle biopsy at age 26 years had shown no evidence...

We present a case of glycogen storage disease type II (Pompe's disease) with the classical clinical presentation and characteristic electrocardiographic changes of this disorder. An acid maltase (EC 3.2.1.20) determination in the peripheral leukocytes revealed normal activity; however, acid maltase activity was completely absent in a pre-mortem skeletal muscle biopsy. Post-mortem studies showed...