TY - JOUR
T1 - Lipid Storage Myopathy in Infantile Pompe's Disease
AU - Sarnat, Harvey B.
AU - Roth, Sanford I.
AU - Carroll, James E.
AU - Brown, Barbara I.
AU - Dungan, W. Thomas
N1 - Funding Information:
Thisinvestigationwassupportedinpartby teacher-investigatoraward5K07N500386from acenterfrom thetheNationalInstitutesofHealth (Dr Carroll), grant MuscularDystrophy Association ofAmerica,Ine(DrCarroll),and grants GM 04761 and HD 12184 from the Nation¬
PY - 1982/3
Y1 - 1982/3
N2 - 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.
AB - 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.
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U2 - 10.1001/archneur.1982.00510150050012
DO - 10.1001/archneur.1982.00510150050012
M3 - Article
C2 - 6461316
AN - SCOPUS:0020029260
SN - 0003-9942
VL - 39
SP - 180
EP - 183
JO - Archives of Neurology
JF - Archives of Neurology
IS - 3
ER -