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

Area of Science:

• Pediatrics
• Genetics
• Immunology

Background:

• Glycogen storage disease type Ib (GSD-Ib) is a rare inherited metabolic disorder.
• It is characterized by impaired glucose metabolism and immune system dysfunction.
• Patients with GSD-Ib often present with recurrent infections and metabolic derangements.

Purpose of the Study:

• To report a case of GSD-Ib in a male infant presenting with severe symptoms.
• To highlight the association between GSD-Ib and immune dysfunction, specifically neutropenia.
• To emphasize the importance of genetic testing and counseling in managing GSD-Ib.

Main Methods:

• Clinical presentation and examination findings of the infant were documented.
• Laboratory investigations including lactate levels and metabolic acidosis assessment were performed.
• Genetic testing identified a homozygous splice site variant in the SLC37A4 gene, confirming GSD-Ib.

Main Results:

• The infant presented with abdominal distension, diarrhea, fever, respiratory distress, hepatosplenomegaly, and characteristic facial features.
• He developed severe metabolic acidosis, elevated lactate, and required mechanical ventilation.
• Persistent infections including sepsis, UTI, and ventilator-associated pneumonia occurred despite antibiotic therapy.

Conclusions:

• This case underscores the significant immune dysfunction, including neutropenia and neutrophil impairment, associated with GSD-Ib.
• This immune compromise leads to increased susceptibility to severe infections and poor treatment response.
• Genetic confirmation of GSD-Ib necessitates genetic counseling and consideration of prenatal testing for affected families.