Glucose-6-Phosphate Dehydrogenase Deficiency G6pd synonyms

Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD deficiency) is most commonly referred to by its full name or the abbreviation G6PD deficiency. It is historically known as "favism" due to the well-documented reaction to fava beans, and it is classified in medical databases under various codes including OMIM #305900 and Orphanet ORPHA:359.

What are the common synonyms for G6PD deficiency?

While Glucose-6-Phosphate Dehydrogenase Deficiency is the standard medical term, you may encounter several synonyms in medical literature or historical records. Because this condition was historically identified by its clinical manifestation—the destruction of red blood cells after consuming fava beans—it is frequently called "favism." Other terms include:

• G6PD deficiency (the most common abbreviation)


• Favism (historical term)


• G6PDH deficiency


• Glucose-6-phosphate dehydrogenase variant


• Primaquine sensitivity (due to the drug-induced hemolysis observed in some patients)

Why does Glucose-6-Phosphate Dehydrogenase Deficiency have multiple names?

The variety of names for Glucose-6-Phosphate Dehydrogenase Deficiency reflects the history of its discovery. Before the underlying enzyme deficiency was understood, the condition was described purely by its symptoms, such as the sudden jaundice and anemia triggered by diet, leading to the name "favism." As clinical genetics advanced, the condition was formally named after the specific enzyme that is either reduced or dysfunctional. Today, medical professionals prefer Glucose-6-Phosphate Dehydrogenase Deficiency because it describes the precise metabolic mechanism rather than a single trigger.

How is the condition classified in medical systems?

Standardized nomenclature is essential for accurate patient records and research. In major global health systems, Glucose-6-Phosphate Dehydrogenase Deficiency is categorized as follows:

1. OMIM (Online Mendelian Inheritance in Man): #305900


2. Orphanet: ORPHA:359


3. ICD-10 (International Classification of Diseases): D55.0 (Anemia due to glucose-6-phosphate dehydrogenase deficiency)

Using these specific identifiers can help you navigate clinical databases and ensure you are accessing information relevant to Glucose-6-Phosphate Dehydrogenase Deficiency.

Next steps

• Confirm your specific G6PD variant with a hematologist or genetic counselor.


• Join our community of 12 members at DiseaseMaps.org to share experiences with Glucose-6-Phosphate Dehydrogenase Deficiency.


• Keep a list of "trigger" medications and foods in your wallet or on your phone.

Medical disclaimer: This information is for educational purposes only and does not replace professional medical advice, diagnosis, or treatment.

References

• NIH Genetic and Rare Diseases Information Center (GARD): G6PD Deficiency


• Orphanet: Glucose-6-Phosphate Dehydrogenase Deficiency (ORPHA:359)


• OMIM: Glucose-6-Phosphate Dehydrogenase (#305900)


• PubMed/NCBI: GeneReviews for G6PD Deficiency