CASE REPORTS
JOURNAL ARTICLE
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Glycogen Storage Disease Type VI With a Novel Mutation in PYGL Gene.

Indian Pediatrics 2017 September 16
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.

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