Literature DB >> 16320310

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

Alfred E Slonim1, Linda Bulone, Jennifer Minikes, Arthur P Hays, Sara Shanske, Seiichi Tsujino, Salvatore DiMauro.   

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.

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Year:  2006        PMID: 16320310     DOI: 10.1002/mus.20473

Source DB:  PubMed          Journal:  Muscle Nerve        ISSN: 0148-639X            Impact factor:   3.217


  8 in total

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7.  Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship.

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  8 in total

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