Benign course of glycogen storage disease type IIb in two brothers: nature or nurture?
Two brothers with the childhood variant of type II glycogenosis (GSD-IIb) treated with nutrition and exercise therapy (NET) from a young age showed an unusually benign course. Muscle biopsy from the older brother, which showed characteristic vacuolar glycogen accumulation at age 2, had reverted to normal by age 16. A muscle biopsy from the younger brother was normal at 5 years. It is uncertain whether this anomalous evolution was spontaneous (nature) or due to the symptomatic therapy (nurture), but NET should be considered in patients with GSD-IIb until enzyme replacement or gene therapy become generally available.
Slonim
Alfred E
AE
North Shore University Hospital, New York University School of Medicine, Manhasset, New York, USA. aeslonim@optonline.net
Bulone
Linda
L
Minikes
Jennifer
J
Hays
Arthur P
AP
Shanske
Sara
S
Tsujino
Seiichi
S
DiMauro
Salvatore
S
D004247:DNA / Q000235:genetics; D005081:Exercise Therapy; D005087:Glucan 1,4-alpha-Glucosidase / Q000378:metabolism; D005960:Glucosides / Q000378:metabolism; D006003:Glycogen / Q000378:metabolism; D052120:Glycogen Storage Disease Type IIb / Q000235:genetics / Q000473:pathology / Q000628:therapy*; D006801:Humans; D006923:Hymecromone / Q000031:analogs & derivatives / Q000378:metabolism; D007223:Infant; D008297:Male; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D018529:Nutritional Support; D016896:Treatment Outcome
D005960:Glucosides; C014110:4-methylumbelliferyl glucoside; D006923:Hymecromone; D006003:Glycogen; D004247:DNA; D005087:Glucan 1,4-alpha-Glucosidase