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Description

Glycogen storage disease type III (GSD III) is a rare inherited disorder of glycogen metabolism that can present in infancy with hypoglycemia, hepatomegaly, and growth failure. Early recognition is critical to prevent metabolic decompensation and long-term complications.

We present a 9-month-old, term, fully vaccinated female with a history of decreased height velocity and poor weight gain who was referred to the HDVCH emergency department after outpatient evaluation for failure to thrive revealed severe transaminitis (AST 1429 U/L, ALT 765 U/L) and hypoglycemia (blood glucose 39 mg/dL). On presentation, she was clinically well appearing. A broad diagnostic evaluation was initiated, including autoimmune, infectious, and metabolic studies. Right upper quadrant ultrasound demonstrated hepatomegaly with hepatic steatosis. Serial point-of-care glucose monitoring revealed recurrent hypoglycemia, including a nadir of 26 mg/dL following an overnight fast, at which time the patient remained asymptomatic. Critical laboratory evaluation showed hypertriglyceridemia, anion gap metabolic acidosis, elevated lactate dehydrogenase, neutropenia, and appropriately suppressed insulin and C-peptide levels. Echocardiogram showed no evidence of cardiomyopathy.

This case highlights the importance of considering glycogen storage diseases in infants presenting with failure to thrive, hypoglycemia, and transaminitis, even in the absence of symptoms during hypoglycemic episodes. Early multidisciplinary involvement and proactive nutritional management are essential to optimize outcomes.

Publication Date

5-8-2026

Disciplines

Pediatrics

Comments

2026 Research Day Corewell Health West, Grand Rapids, MI, May 8, 2026. Abstract 1996

Diagnosis of Glycogen Storage Disease Type III in an Infant with Failure to Thrive

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