A Rare Presentation of Glucose-6-Phosphate Dehydrogenase Deficiency

Approximately 400 million individuals globally experience glucose-6-phosphate dehydrogenase (G6PD) insufficiency, an enzymatic condition that may be hazardous. Because of mutations in the gene, which result in functional variants alongside a variety of biochemical and clinical symptoms, this conditi...

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Published inCurēus (Palo Alto, CA) Vol. 16; no. 7; p. e63879
Main Authors Tyagi, Neha, Premkumar, Varsha, Patil, Manojkumar G, Tambolkar, Sampada, Mane, Shailaja V
Format Journal Article
LanguageEnglish
Published United States Cureus Inc 05.07.2024
Cureus
Subjects
Abdomen
Analgesics
Anemia
Dehydrogenases
Genetics
Glucose
Hematology
Hemoglobin
Hepatitis
Intensive care
Leukocytes
Liver
Pediatrics
Phosphatase
Potassium
Toxicity
India
jaundice
acute hemolytic anemia
viral hepatitis a
glucose-6-phosphate-dehydrogenase deficiency (g6pd)
x-linked genetic diseases
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Summary:Approximately 400 million individuals globally experience glucose-6-phosphate dehydrogenase (G6PD) insufficiency, an enzymatic condition that may be hazardous. Because of mutations in the gene, which result in functional variants alongside a variety of biochemical and clinical symptoms, this condition is an X-linked hereditary genetic disorder. Our case is that of a 12-year-old male child who presented with acute liver failure and later on, exhibited signs of hemolysis as well. We had to rule out the possibilities of acetaminophen toxicity and hepatitis A before reaching the conclusion that an underlying G6PD deficiency was being exacerbated by viral infection and simultaneous ingestion of non-steroidal anti-inflammatory drugs (NSAIDs).
Bibliography:ObjectType-Case Study-2
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ISSN:2168-8184
2168-8184
DOI:10.7759/cureus.63879