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Glycogen storage myopathy with abnormal lactate dehydrogenase
Neuropediatrics
|May 1, 1982
Summary
A study on a child with muscle weakness revealed significantly high glycogen levels. Abnormal lactate dehydrogenase activity is suspected as the cause of this glycogen storage disease.
Area of Science:
- Biochemistry
- Pediatrics
- Genetics
Background:
- Glycogen storage diseases (GSDs) are a group of inherited metabolic disorders.
- Muscle weakness and mental retardation can be symptoms of GSDs.
- Identifying the specific enzyme deficiency is crucial for diagnosis and management.