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Journal of Neurology, Neurosurgery, and Psychiatry logoLink to Journal of Neurology, Neurosurgery, and Psychiatry
. 1986 Sep;49(9):1011–1018. doi: 10.1136/jnnp.49.9.1011

Acid maltase deficiency: a case study and review of the pathophysiological changes and proposed therapeutic measures.

H Isaacs, N Savage, M Badenhorst, T Whistler
PMCID: PMC1029005  PMID: 3093639

Abstract

An adult patient with lysosomal acid alpha-glucosidase deficiency was fully investigated, and then placed on various forms of therapy with favourable response to a high protein, low carbohydrate diet. The rationale for the employment of this therapy, the problem of acid maltase deficiency and the relationship to weakness and glycogenosome formation with accumulation or otherwise of glycogen within the muscle fibres is discussed.

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Selected References

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