Lipid Storage Myopathy in Infantile Pompe's Disease

Harvey B. Sarnat, Sanford I. Roth, James E. Carroll, Barbara I. Brown, W. Thomas Dungan

Research output: Contribution to journalArticlepeer-review

15 Scopus citations


An infant died at 8 months of age with a history of developmental regression, hypotonia, severe weakness, cardiomegaly, congestive heart failure, and hepatomegaly. A diagnosis of Pompe's disease (glycogenosis type II) was established by muscle biopsy at 5 months of age. Vacuolar myopathy involved muscle fibers of histochemical type I more than type II. Many vacuoles were filled with glycogen. In addition, increased amounts of neutral lipid were demonstrated by oil red O stain, electron microscopy, and quantitative analysis. Acid α-1,4-glucosidase activity was demonstrated to be deficient. Biochemical studies failed to determine the cause of the lipid accumulation, but demonstrated a low total concentration of carnitine in the muscle (6.37 nmole/mg of protein), associated with elevated activities of carnitine palmityltransferase and palmityl-coenzyme A dehydrogenase. Palmityl-coenzyme A synthetase activity was in the normal range.

Original languageEnglish (US)
Pages (from-to)180-183
Number of pages4
JournalArchives of Neurology
Issue number3
StatePublished - Mar 1982
Externally publishedYes

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology


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