Glycogen storage disorder Type IXa and congenital hypothyroidism: A novel association

Authors

  • Somashekara Hosaagrahara Ramakrishna
  • Spoorthi Nargund
  • Subramanian Kannan

Keywords:

Glycogen storage disease Type IX, Glycogen storage disorder, Hypothyroidism

Abstract

Glycogen storage disease (GSD) is a disorder of glycogen metabolism and GSDs are classified according to the enzyme deficiency and the affected tissue. Previously, an association of thyroid autoimmunity and hypothyroidism in patients with GSD has been reported. Here, we are presenting a rare association of congenital hypothyroidism with GSD IXa in a child who presented with progressive abdominal distension and hepatomegaly. GSD was suspected clinically and was confirmed by whole-exome sequencing

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Published

2020-11-29

Issue

Section

Case Reports

How to Cite

Glycogen storage disorder Type IXa and congenital hypothyroidism: A novel association. (2020). Indian Journal of Child Health, 7(11), 459-461. https://mansapublishers.com/index.php/ijch/article/view/2639

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