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Infantile Pompe's disease, lipid storage, and partial carnitine deficiency
Author(s) -
Verity M. Anthony
Publication year - 1991
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.880140509
Subject(s) - carnitine , endocrinology , medicine , hypotonia , muscle hypotonia , muscle biopsy , mitochondrion , dehydrogenase , biology , peroxisome , myopathy , enzyme , biochemistry , chemistry , biopsy , gene
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 α−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 β‐oxidation with the notable exception of low normal β‐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 β‐hydroxyacyl CoA dehydrogenase, representing a rate limiting enzyme of β‐oxidation, and nonspecific defective mitochondrial function.