{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T08:49:05Z","timestamp":1790153345439,"version":"4.0.1"},"reference-count":24,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2004,10,13]],"date-time":"2004-10-13T00:00:00Z","timestamp":1097625600000},"content-version":"vor","delay-in-days":4914,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[1991,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A diagnosis of infantile Pompe's disease (glycogenosis type II) was made by muscle biopsy on a 6\u2010month\u2010old infant boy seen with hypotonia, weakness, and developmental regression. Histochemistry and electron microscopy revealed a vacuolar myopathy with massive glycoge accumulation associated with increased neutral lipid as demonstrated on Oil Red O reactions. Pleomorphic, hypertrophic mitochondria with distortion of cristae and electron\u2010dense deposits within the matrix were identified. Acid \u03b1\u22121,4\u2010glucosidase activity was absent but associated with increased neutral maltase activity and a variable compensatory rise in activity of other lysosomal enzymes. Biochemical studies demonstrated low free carnitine, normal acylcarnitine, increased activity of carnitine palmityl and acyl transferases, and other enzymes of \u03b2\u2010oxidation with the notable exception of low normal \u03b2\u2010hydroxyacyl\u2010CoA dehydrogenase activity. The explanation for the lipid accumulation is uncertain but is likely related to the combination of low carnitine concentration in muscle, low \u03b2\u2010hydroxyacyl CoA dehydrogenase, representing a rate limiting enzyme of \u03b2\u2010oxidation, and nonspecific defective mitochondrial function.<\/jats:p>","DOI":"10.1002\/mus.880140509","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T09:53:13Z","timestamp":1104573193000},"page":"435-440","source":"Crossref","is-referenced-by-count":26,"title":["Infantile Pompe's disease, lipid storage, and partial carnitine deficiency"],"prefix":"10.1002","volume":"14","author":[{"given":"M. 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