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PMID: 16320310 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't

Benign course of glycogen storage disease type IIb in two brothers: nature or nurture?

Muscle & nerve ·Vol. 33 ·No. 4 ·2006-04-00 ·Pages 571-4

Slonim AE, Bulone L, Minikes J, Hays AP, Shanske S, Tsujino S, DiMauro S

Abstract

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.

MeSH Terms
DNA/genetics Exercise Therapy Glucan 1,4-alpha-Glucosidase/metabolism Glucosides/metabolism Glycogen/metabolism Glycogen Storage Disease Type IIb/genetics,pathology,therapy Humans Hymecromone/analogs & derivatives,metabolism Infant Male Muscle, Skeletal/metabolism,pathology Nutritional Support Treatment Outcome
Chemicals
Glucosides 4-methylumbelliferyl glucoside Hymecromone Glycogen DNA Glucan 1,4-alpha-Glucosidase
Authors & Affiliations
7 authors, click to expand affiliations / ORCID
Slonim Alfred E
North Shore University Hospital, New York University School of Medicine, Manhasset, New York, USA. aeslonim@optonline.net
Bulone Linda
Minikes Jennifer
Hays Arthur P
Shanske Sara
Tsujino Seiichi
DiMauro Salvatore
Article Info
Journal
Muscle & nerve
Abbr.
Muscle Nerve
ISSN
0148-639X
Published
2006-04-00
Pages
571-4
Language
English
Region
United States
NLM ID
7803146
Subset
IM
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