Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 1981 Jan;31(1):51-7.
doi: 10.1212/wnl.31.1.51.

Lysosomal glycogen storage disease with normal acid maltase

M J Danon, S J Oh, S DiMauro, J R Manaligod, A Eastwood, S Naidu, L H Schliselfeld
Case Reports

Lysosomal glycogen storage disease with normal acid maltase

M J Danon et al. Neurology. 1981 Jan.

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.

PubMed Disclaimer

Publication types

LinkOut - more resources