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Uncovering an undisclosed diagnosis: a glucose-6-phosphate dehydrogenase deficiency diagnosis in a critically ill adult.

Brittany M KasturiarachiDavid RobinsonKristine KarkoskaJahnavi Gollamudi
Published in: EJHaem (2024)
Glucose-6-phosphate dehydrogenase (G6PD) deficiency affects over 400 million people worldwide. The most common variant of G6PD deficiency in the United States is the A-variant, which is present amongst African-Americans. Most people with this variant, however, do not experience severe hemolysis unless under extreme circumstances. Here, we present the case of a 44-year-old African-American male who under circumstances of multiple admissions for critical illness eventually presented with a masked diagnosis of G6PD deficiency.
Keyphrases
  • african american
  • replacement therapy
  • blood glucose
  • climate change
  • early onset
  • adipose tissue
  • skeletal muscle
  • young adults
  • insulin resistance
  • childhood cancer