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Severe course of glycogen storage disease type II (Pompe's disease) without development of cardiomegalia
Insights
Glycogen storage disease type II Pompe (GSD II) presents with variants. This infant showed classical GSD II symptoms but lacked cardiomegaly and had high enzyme activity, highlighting the diagnostic value of ultrastructural investigation.
Area of Science:
- Biochemistry
- Genetics
- Cell Biology
Background:
- Glycogen storage disease type II Pompe (GSD II) is a lysosomal storage disorder.
- It results from deficient acid alpha-glucosidase activity.
- Classical infantile and other clinical variants are known.
Observation:
- This study details an infant with a classical GSD II presentation.
- The patient exhibited high residual acid alpha-glucosidase activity in fibroblasts and muscle.
- Notably, cardiomegaly was absent in this case.
Findings:
- Despite high enzyme activity and no cardiomegaly, glycogen-storing lysosomes were observed.
- These lysosomes were identified in peripheral lymphocytes and skeletal muscle cells.
- This case underscores the diagnostic utility of ultrastructural examination in GSD II.
Implications:
- Ultrastructural investigation is crucial for diagnosing GSD II, especially in atypical cases.
- Identifying glycogen-storing lysosomes aids in confirming the diagnosis.
- This finding contributes to understanding the spectrum of GSD II clinical and biochemical presentations.
Abstract:
Glycogen storage disease type II Pompe (GSD II) is a lysosomal storage disease caused by an inherited deficiency of acid alpha-glucosidase. In addition to the classical infantile form of GSD II, several clinical variants are known. We describe an infant with the classical course of the disease. Our patient differs from the classical variant by the lack of cardiomegalia and the high residual activity of acid alpha-glucosidase in cultivated skin fibroblasts and muscle tissue. In the present case, however, glycogen storing lysosomes were found in peripheral lymphocytes and skeletal muscle cells. This finding underlines the particular value of ultrastructural investigation in the diagnosis of GSD II.