title: Infantile Pompe's disease, lipid storage, and partial carnitine deficiency.
abstract: A diagnosis of infantile Pompe's disease (glycogenosis type II) was made by muscle biopsy on a 6-month-old 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-dense deposits within the matrix were identified. Acid alpha-1,4-glucosidase 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 beta-oxidation with the notable exception of low normal beta-hydroxyacyl-CoA dehydrogenase activity. The explanation for the lipid accumulation is uncertain but is likely related to the combination of low carnitine concentration in muscle, low beta-hydroxyacyl CoA dehydrogenase, representing a rate limiting enzyme of beta-oxidation, and nonspecific defective mitochondrial function.
authors.affiliation: Department of Pathology (Neuropathology), UCLA School of Medicine 90024-1732.
authors.forename: M A
authors.initials: MA
authors.lastname: Verity
mesh_terms: D002331:Carnitine / Q000172:deficiency*; D006009:Glycogen Storage Disease Type II / Q000150:complications* / Q000378:metabolism / Q000473:pathology; D006801:Humans; D007223:Infant; D050356:Lipid Metabolism; D008297:Male; D009135:Muscular Diseases / Q000150:complications* / Q000378:metabolism / Q000473:pathology
chemical_list: D002331:Carnitine