6-phosphogluconate dehydrogenase deficiency - Revision history

Prab at 04:22, 25 March 2025

2025-03-25T04:22:13Z

← Older revision		Revision as of 04:22, 25 March 2025
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	== 6-Phosphogluconate ~~Dehydrogenase Deficiency =~~=		{{Infobox medical condition
			\| name = 6-Phosphogluconate dehydrogenase deficiency
	[[File:PDB_1pgq_EBI.jpg\|~~thumb\|~~Structure of 6-phosphogluconate dehydrogenase]]		\| 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 ~~Pages~~ ==		== Related pages ==

	* [[Pentose phosphate pathway]]		* [[Pentose phosphate pathway]]
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	* [[Hemolytic anemia]]		* [[Hemolytic anemia]]
	* [[Enzyme deficiency]]		* [[Enzyme deficiency]]

	~~== Gallery ==~~

	~~<gallery>~~
	~~File:PDB_1pgq_EBI.jpg\|Structure of 6-phosphogluconate dehydrogenase~~
	~~File:6-phosphogluconate_dehydrogenase_deficiency.png\|Pathway involving 6-phosphogluconate dehydrogenase~~
	~~</gallery>~~

	[[Category:Metabolic disorders]]		[[Category:Metabolic disorders]]
	[[Category:Enzyme deficiencies]]		[[Category:Enzyme deficiencies]]
	~~<gallery>~~		{{genetics-stub}}
	~~File:PDB_1pgq_EBI.jpg\|Structure of 6~~-~~phosphogluconate dehydrogenase~~
	~~File:6-phosphogluconate_dehydrogenase_deficiency.png\|6-phosphogluconate dehydrogenase deficiency~~
	~~</gallery>~~

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2025-02-18T01:18:14Z

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← Older revision		Revision as of 01:18, 18 February 2025
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	[[Category:Metabolic disorders]]		[[Category:Metabolic disorders]]
	[[Category:Enzyme deficiencies]]		[[Category:Enzyme deficiencies]]
			<gallery>
			File:PDB_1pgq_EBI.jpg\|Structure of 6-phosphogluconate dehydrogenase
			File:6-phosphogluconate_dehydrogenase_deficiency.png\|6-phosphogluconate dehydrogenase deficiency
			</gallery>

Prab: CSV import

2025-02-11T21:09:19Z

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New page

== 6-Phosphogluconate Dehydrogenase Deficiency ==

[[File:PDB_1pgq_EBI.jpg|thumb|Structure of 6-phosphogluconate dehydrogenase]]
[[File:6-phosphogluconate_dehydrogenase_deficiency.png|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.

== Pathophysiology ==

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 ==

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 ==

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 ==

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 ==

* [[Pentose phosphate pathway]]
* [[NADPH]]
* [[Hemolytic anemia]]
* [[Enzyme deficiency]]

== Gallery ==

<gallery>
File:PDB_1pgq_EBI.jpg|Structure of 6-phosphogluconate dehydrogenase
File:6-phosphogluconate_dehydrogenase_deficiency.png|Pathway involving 6-phosphogluconate dehydrogenase
</gallery>

[[Category:Metabolic disorders]]
[[Category:Enzyme deficiencies]]