Related Experiment Video
Updated: Oct 7, 2026

Biochemical Titration of Glycogen In vitro
Published on: November 24, 2013
A newborn with glycogen storage disease type Ib presenting with hypoglycemia and evidence of mitochondrial
Meredith Fuchs1, Laura Keehan2, Tyler Ky2
1Emory University School of Medicine, Atlanta, GA, USA.
Abstract:
Glycogen storage disease type Ib (GSDIb) is an inherited disorder of carbohydrate metabolism that commonly presents in infancy. Here, we describe a case of GSDIb who presented on the first day of life with severe hypoglycemia and lactic acidosis, prompting a broad differential diagnosis. Additional testing revealed hyperlipidemia, relatively low ketones, and elevations of TCA-cycle intermediates in urine suggestive of primary or secondary mitochondrial dysfunction. The diagnosis of GSDIb was established by genome sequencing showing homozygous likely pathogenic variants in SLC37A4. This case highlights the importance of including GSDIb in the differential diagnosis of neonatal hypoglycemia and reinforces the underreported metabolic pattern of mitochondrial dysfunction that can be seen in GSDIb.
Related Concept Videos
Inborn Errors of Metabolism
Glucose Transporters
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Type I Diabetes III: Clinical Manifestations
Type II Diabetes II: Pathophysiology
Overview of Carbohydrate Metabolism
Glucose transport into cells is facilitated by a family of transport proteins called GLUT (Glucose Transporters). GLUT4 is the primary glucose transporter for insulin-stimulated glucose...
Diabetes Mellitus: Introduction
