Glycogen branching enzyme deficiency in adult polyglucosan body disease.
Branching enzyme activity was assayed in muscle, peripheral nerve, and leukocytes from 2 Ashkenazi-Jewish patients with adult polyglucosan body disease and 1 African-American and 3 Caucasian patients with the same clinical and pathological features. Branching enzyme activity was normal in the muscle specimens from both Jewish and non-Jewish patients. However, the activity was markedly decreased not only in the leukocytes from the 2 Jewish patients (confirming previous findings), but also in peripheral nerve specimens, whereas it was normal in nerve tissue and leukocytes from all non-Jewish patients. These data confirm a branching enzyme deficiency in a subgroup of patients with adult polyglucosan body disease, and show that the defect is tissue-specific, suggesting that adult polyglucosan body disease has more than one biochemical basis.
Bruno
C
C
Muscular Dystrophy Association, H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Columbia-Presbyterian Medical Center, New York, NY.
Servidei
S
S
Shanske
S
S
Karpati
G
G
Carpenter
S
S
McKee
D
D
Barohn
R J
RJ
Hirano
M
M
Rifai
Z
Z
DiMauro
S
S
D015061:1,4-alpha-Glucan Branching Enzyme / Q000172:deficiency*; D000368:Aged; D000369:Aged, 80 and over; D001369:Axons / Q000378:metabolism* / Q000648:ultrastructure; D001706:Biopsy; D005260:Female; D005947:Glucose / Q000378:metabolism*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000201:enzymology / Q000473:pathology; D009422:Nervous System Diseases / Q000378:metabolism* / Q000473:pathology; D011108:Polymers / Q000378:metabolism*; D013497:Sural Nerve / Q000473:pathology
D011108:Polymers; D015061:1,4-alpha-Glucan Branching Enzyme; D005947:Glucose