Lipid Storage Myopathy in Infantile Pompe's Disease

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

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

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
Volume39
Issue number3
DOIs
StatePublished - Jan 1 1982
Externally publishedYes

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Glycogen Storage Disease Type II
Carnitine
Slow-Twitch Muscle Fibers
Coenzyme A Ligases
Glucosidases
Lipids
Muscles
Muscle Hypotonia
Hepatomegaly
Cardiomegaly
Coenzyme A
Vacuoles
Glycogen
Electron Microscopy
Oxidoreductases
Reference Values
Coloring Agents
Heart Failure
Biopsy
Acids

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology

Cite this

Lipid Storage Myopathy in Infantile Pompe's Disease. / Sarnat, Harvey B.; Roth, Sanford I.; Carroll, James Edwin; Brown, Barbara I.; Dungan, W. Thomas.

In: Archives of Neurology, Vol. 39, No. 3, 01.01.1982, p. 180-183.

Research output: Contribution to journalArticle

Sarnat, Harvey B. ; Roth, Sanford I. ; Carroll, James Edwin ; Brown, Barbara I. ; Dungan, W. Thomas. / Lipid Storage Myopathy in Infantile Pompe's Disease. In: Archives of Neurology. 1982 ; Vol. 39, No. 3. pp. 180-183.
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