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Lysosomal glycogen storage disease with normal acid maltase
Abstract
Two unrelated 16-year-old boys had mental retardation, cardiomegaly, and proximal myopathy. One also had hepatomegaly. Histochemistry and electronmicroscopy of muscle biopsies showed lysosomal glycogen storage resembling acid maltase deficiency. Biochemical studies of skeletal muscle showed increased content of glycogen of normal structure; acid alpha-glucosidase activity in both urine and muscle was normal. Other enzymes of glycogen metabolism were also normal. The cause of this apparently generalized glycogenosis with no demonstrable enzyme defect is unknown.
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Cited by
Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)
Nishino, I., Fu, J., Tanji, K., Yamada, T., Shimojo, S., Koori, T., Mora, M., Riggs, J. E., Oh, S. J., Koga, Y., et al. (2000) · Nature · doi:10.1038/35022604 · Cited by 959
Self-citationAccumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice
Tanaka, Y., Guhde, G., Suter, A., Eskelinen, E.-L., Hartmann, D., Lüllmann-Rauch, R., Janssen, P. M. L., Blanz, J., von Figura, K., & Saftig, P. (2000) · Nature · doi:10.1038/35022595 · Cited by 925
Autophagy and Its Normal and Pathogenic States in the Brain
Yamamoto, A., & Yue, Z. (2014) · Annual Review of Neuroscience · doi:10.1146/annurev-neuro-071013-014149 · Cited by 204
Glycogen Metabolism and Glycogen Storage Disorders
Kanungo, S., Wells, K., Tribett, T., & El-Gharbawy, A. (2018) · Annals of Translational Medicine · doi:10.21037/atm.2018.10.59 · Cited by 200
Biochemical and Clinical Aspects of Glycogen Storage Diseases
Ellingwood, S. S., & Cheng, A. (2018) · Journal of Endocrinology · doi:10.1530/joe-18-0120 · Cited by 118
Metadata
- Authors
- Danon, M. J., Oh, S. J., DiMauro, S., Manaligod, J. R., Eastwood, A., Naidu, S., & Schliselfeld, L. H.
- Venue
- Neurology
- Published
- 1981-01
- Volume
- 31
- Issue
- 1
- Pages
- 51-51
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- OpenAlex
- W2092678405
- Cited by
- 405
- References
- 0
- FWCI
- 3.44
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Lysosomal glycogen storage disease with normal acid maltase. https://app.cochat.ai/papers/10.1212/wnl.31.1.51
- The paper
- Danon, M. J., Oh, S. J., DiMauro, S., Manaligod, J. R., Eastwood, A., Naidu, S., & Schliselfeld, L. H. (1981). Lysosomal glycogen storage disease with normal acid maltase. Neurology. https://doi.org/10.1212/wnl.31.1.51
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
