Glycogen Storage Disease Type Ilia Presenting as Non-Ketotic Hypoglycemia: Use of a Newly Approved Commercially Available Mutation Analysis to Non-Invasively Confirm the Diagnosis

Jonathan Seigel; David A. Weinstein; Richard Hillman; Brooke Colbert; Belinda Matthews; Bert Bachrach

doi:10.1515/jpem-2008-210613

Published by De Gruyter October 22, 2020

Glycogen Storage Disease Type Ilia Presenting as Non-Ketotic Hypoglycemia: Use of a Newly Approved Commercially Available Mutation Analysis to Non-Invasively Confirm the Diagnosis

Jonathan Seigel , David A. Weinstein , Richard Hillman , Brooke Colbert , Belinda Matthews and Bert Bachrach

From the journal Journal of Pediatric Endocrinology and Metabolism

https://doi.org/10.1515/jpem-2008-210613

Showing a limited preview of this publication:

Abstract

Glycogen storage disease type III (GSD-111) is an autosomal recessive disorder caused by the lack of amylo-1,6-glucosidase (AGL), one of the catalytic domains of the glycogen debranching enzyme. Deficiency of this enzyme classically results in hepatomegaly and ketotic hypoglycemia. The diagnosis of the disorder was previously confirmed with a liver biopsy demonstrating abnormal liver glycogen content and absent enzyme activity. We describe an 11 month-old African-American Jehovah's Witness male with non-ketotic hypoglycemia (NKH), hepatomegaly, cardiomyopathy, and a flat glucagon response confirmed to have GSD-IIIa by mutation analysis of the A GL gene. The present case represents an unusual presentation (NKH) of GSD-IIIa and emphasizes the utility of the newly approved commercially available Clinical Laboratory Improvement Advisory Committee (CLIA) mutation analysis test.

Keywords: arnylo-1 ,6-glucosidase; glycogen storage disease; glycogen storage disease type III; glycogen storage disease type lila; non-ketotic hypoglycemia; Jehovah's Witness

Published Online: 2020-10-22

Published in Print: 2008-06-01

Glycogen Storage Disease Type Ilia Presenting as Non-Ketotic Hypoglycemia: Use of a Newly Approved Commercially Available Mutation Analysis to Non-Invasively Confirm the Diagnosis

Abstract

Journal and Issue

Articles in the same Issue