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abstractpubmed· Abstract 2017· item PMID:28984260
Glycogen Storage Disease Type VI With a Novel Mutation in PYGL Gene. BACKGROUND: Glycogen storage disease type VI (GSD-VI) presents with failure to thrive and also fibrosis in some cases, without cirrhosis. CASE CHARACTERISTICS: 2½-year-old girl presented with short stature, transaminase elevation and significant fibrosis, suggesting GSD-III. OBSERVATION: A pathogenic mutation in PYGL gene suggested GSD-VI. MESSAGE: GSD-VI should be a differential diagnosis whenever GSD-III is suspected.