Infantile Onset Glycogen Storage Disease Type 2: Case Report
Glycogen storage disease type 2 (Pompe’s disease) is an autosomal recessive, fatal glycogen storage disease presenting with hypotonia and muscle weakness. It is known that deficiency of lysosomal acid alpha-glucosidase (acid maltase) leads to progressive generalised myopathy, cardiomyopathy and deat...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Galenos Publishing House
2014-08-01
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| Series: | Güncel Pediatri |
| Subjects: | |
| Online Access: | http://dx.doi.org/10.4274/jcp.87487 |
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| Summary: | Glycogen storage disease type 2 (Pompe’s disease) is an autosomal recessive, fatal glycogen storage disease presenting with hypotonia and muscle weakness. It is known that deficiency of lysosomal acid alpha-glucosidase (acid maltase) leads to progressive generalised myopathy, cardiomyopathy and death in early infancy because of respiratory muscle weakness. Excessive undegradable intracellular glycogen deposition plays a role in the pathogenesis of the disease. Here we report a 3.5 month-old girl presenting with respiratory failure due to pneumonia and hypotonia, who was later diagnosed as Pompe disease. |
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| ISSN: | 1304-9054 |