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Glycogen storage disease type VI with a novel mutation in PYGL gene

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Abstract

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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References

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Author information

Authors and Affiliations

  1. Department of Pediatrics, JIPMER, Puducherry, 605 006, India

    Barath Jagadisan

  2. Department of Pediatrics, Diagnostics Division, Centre for DNA Fingerprinting & Diagnostics, Department of Medical Genetics, Nizam’s Institute of Medical Sciences, Hyderabad, India

    Prajnya Ranganath

Authors
  1. Barath Jagadisan
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  2. Prajnya Ranganath
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Corresponding author

Correspondence to Barath Jagadisan.

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Jagadisan, B., Ranganath, P. Glycogen storage disease type VI with a novel mutation in PYGL gene. Indian Pediatr 54, 775–776 (2017). https://doi.org/10.1007/s13312-017-1174-3

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  • DOI: https://doi.org/10.1007/s13312-017-1174-3

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