A Rare Presentation of Glucose-6-Phosphate Dehydrogenase Deficiency

Area of Science:

• Genetics and Enzymology
• Pediatric Gastroenterology and Hematology

Background:

• Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a prevalent X-linked hereditary genetic disorder affecting approximately 400 million individuals worldwide.
• This condition arises from mutations in the G6PD gene, leading to functional enzyme variants and diverse clinical manifestations.

Observation:

• A 12-year-old male presented with acute liver failure.
• The patient subsequently developed signs of hemolysis.
• Differential diagnoses included acetaminophen toxicity and hepatitis A.

Findings:

• The clinical presentation was ultimately attributed to an underlying G6PD deficiency.
• The deficiency was exacerbated by a concurrent viral infection.
• Simultaneous ingestion of non-steroidal anti-inflammatory drugs (NSAIDs) also contributed to the adverse events.

Implications:

• Highlights the critical need to consider G6PD deficiency in pediatric patients presenting with acute liver failure and hemolysis, especially when exposed to certain triggers.
• Emphasizes the potential for drug-induced hemolytic anemia and liver injury in individuals with G6PD deficiency.
• Underscores the importance of accurate diagnosis and avoidance of inciting agents like NSAIDs and certain infections in managing G6PD deficiency.