Glucose-6-phosphate transporter deficiency (GSD type Ib) in an infant with an ominous outcome

A male infant presented with progressive abdominal distension, diarrhoea, fever and respiratory distress. Examination revealed hepatosplenomegaly, doll-like facies, thin extremities and oral/perianal rash. His history included recurrent pneumonia. By day six, he developed severe metabolic acidosis with elevated lactate, requiring mechanical ventilation. Despite antibiotic therapy, he suffered persistent infections including sepsis, UTI and ventilator-associated pneumonia. Genetic testing confirmed glycogen storage disease type Ib (GSD-Ib), identifying a homozygous splice site variant in intron 9 of the SLC37A4 gene. This case highlights the immune dysfunction-neutropenia and neutrophil impairment-associated with GSD-Ib, contributing to increased infection susceptibility and poor response to treatment. Genetic counselling and prenatal testing were recommended.