6-phosphogluconate dehydrogenase deficiency: Difference between revisions
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{{Infobox medical condition | |||
| name = 6-Phosphogluconate dehydrogenase deficiency | |||
[[File:PDB_1pgq_EBI.jpg| | | image = [[File:PDB_1pgq_EBI.jpg]] | ||
[[File:6-phosphogluconate_dehydrogenase_deficiency.png|thumb|Pathway involving 6-phosphogluconate dehydrogenase]] | | caption = Structure of 6-phosphogluconate dehydrogenase | ||
| synonyms = 6PGD deficiency | |||
| field = [[Hematology]] | |||
| symptoms = [[Hemolytic anemia]], [[jaundice]], [[fatigue]] | |||
| complications = [[Chronic hemolytic anemia]] | |||
| onset = Varies | |||
| duration = Lifelong | |||
| causes = [[Genetic mutation]] in the [[6-phosphogluconate dehydrogenase]] gene | |||
| risks = [[Family history]] | |||
| diagnosis = [[Blood test]], [[genetic testing]] | |||
| differential = [[Glucose-6-phosphate dehydrogenase deficiency]], [[Pyruvate kinase deficiency]] | |||
| prevention = None | |||
| treatment = [[Avoidance of triggers]], [[blood transfusion]] | |||
| medication = None specific | |||
| prognosis = Variable, generally good with management | |||
| frequency = Rare | |||
}} | |||
[[File:6-phosphogluconate_dehydrogenase_deficiency.png|left|thumb|Pathway involving 6-phosphogluconate dehydrogenase]] | |||
'''6-Phosphogluconate dehydrogenase deficiency''' is a rare [[metabolic disorder]] that affects the [[pentose phosphate pathway]], specifically the oxidative phase. This deficiency is due to a lack of the enzyme [[6-phosphogluconate dehydrogenase]], which plays a crucial role in the conversion of 6-phosphogluconate to ribulose 5-phosphate. | '''6-Phosphogluconate dehydrogenase deficiency''' is a rare [[metabolic disorder]] that affects the [[pentose phosphate pathway]], specifically the oxidative phase. This deficiency is due to a lack of the enzyme [[6-phosphogluconate dehydrogenase]], which plays a crucial role in the conversion of 6-phosphogluconate to ribulose 5-phosphate. | ||
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There is no specific treatment for 6-phosphogluconate dehydrogenase deficiency. Management focuses on avoiding triggers of hemolysis, such as certain [[drugs]] and [[infections]]. In cases of severe anemia, [[blood transfusions]] may be necessary. | There is no specific treatment for 6-phosphogluconate dehydrogenase deficiency. Management focuses on avoiding triggers of hemolysis, such as certain [[drugs]] and [[infections]]. In cases of severe anemia, [[blood transfusions]] may be necessary. | ||
== Related | == Related pages == | ||
* [[Pentose phosphate pathway]] | * [[Pentose phosphate pathway]] | ||
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* [[Hemolytic anemia]] | * [[Hemolytic anemia]] | ||
* [[Enzyme deficiency]] | * [[Enzyme deficiency]] | ||
[[Category:Metabolic disorders]] | [[Category:Metabolic disorders]] | ||
[[Category:Enzyme deficiencies]] | [[Category:Enzyme deficiencies]] | ||
{{genetics-stub}} | |||
Latest revision as of 04:22, 25 March 2025
| 6-Phosphogluconate dehydrogenase deficiency | |
|---|---|
| |
| Synonyms | 6PGD deficiency |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Hemolytic anemia, jaundice, fatigue |
| Complications | Chronic hemolytic anemia |
| Onset | Varies |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation in the 6-phosphogluconate dehydrogenase gene |
| Risks | Family history |
| Diagnosis | Blood test, genetic testing |
| Differential diagnosis | Glucose-6-phosphate dehydrogenase deficiency, Pyruvate kinase deficiency |
| Prevention | None |
| Treatment | Avoidance of triggers, blood transfusion |
| Medication | None specific |
| Prognosis | Variable, generally good with management |
| Frequency | Rare |
| Deaths | N/A |
6-Phosphogluconate dehydrogenase deficiency is a rare metabolic disorder that affects the pentose phosphate pathway, specifically the oxidative phase. This deficiency is due to a lack of the enzyme 6-phosphogluconate dehydrogenase, which plays a crucial role in the conversion of 6-phosphogluconate to ribulose 5-phosphate.
Pathophysiology[edit]
The pentose phosphate pathway is essential for the production of NADPH and ribose 5-phosphate. NADPH is crucial for biosynthetic reactions and for maintaining the redox state of cells by regenerating glutathione. In 6-phosphogluconate dehydrogenase deficiency, the reduced activity of the enzyme leads to decreased NADPH production, which can impair the cell's ability to handle oxidative stress.
Clinical Manifestations[edit]
Individuals with 6-phosphogluconate dehydrogenase deficiency may present with symptoms similar to those seen in other red blood cell enzymopathies, such as hemolytic anemia. Symptoms can include fatigue, jaundice, and pallor. The severity of symptoms can vary widely among affected individuals.
Diagnosis[edit]
Diagnosis of 6-phosphogluconate dehydrogenase deficiency is typically made through biochemical assays that measure the activity of the enzyme in red blood cells. Genetic testing can also be used to identify mutations in the gene encoding 6-phosphogluconate dehydrogenase.
Treatment[edit]
There is no specific treatment for 6-phosphogluconate dehydrogenase deficiency. Management focuses on avoiding triggers of hemolysis, such as certain drugs and infections. In cases of severe anemia, blood transfusions may be necessary.
Related pages[edit]
