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As seen in: British Pharmacological Society
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Integrated Phenotypic and Genotypic Approaches for Accurate Diagnosis of G6PD Deficiency: Implications for Drug Safety in Thailand

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By Natnicha Pengsuk, Kamonwan Chamchoy, Princess Srisavangavadhana Faculty, Chatnapa Duangdee
| British Pharmacological Society
1 Introduction Glucose-6-phosphate dehydrogenase (G6PD) deficiency, an X-linked disorder caused by mutations in the G6PD gene, is the most common human enzymopathy, affecting approximately 500 million people worldwide [1]. Over 230 G6PD variants have been identified to date. While most variants primarily result from single point mutations, double mutations, synonymous mutations, and intronic mutations leading to G6PD deficiency are becoming increasingly recognized [2-4].
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