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{{Glucose-6-phosphate dehydrogenase deficiency}}
{{Glucose-6-phosphate dehydrogenase deficiency}}
'''For patient information, click [[Xyz (patient information)|here]]'''
* {{CMG}} {{shyam}}; {{AE}} {{MA}}


{{CMG}}; {{AE}}{{MA}}
==Overview==
 
The majority of patients with G6PD deficiency are [[asymptomatic]]. Common symptoms of G6PD include [[nausea]], [[back pain]], [[headache]], [[chills]]. Less common symptoms include [[acute renal failure]] and [[shortness of breath]].  
 
 
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{{CMG}}; '''Associate Editor(s)-In-Chief:''' [[Priyamvada Singh|Priyamvada Singh, M.D.]] [mailto:psingh13579@gmail.com]


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==Overview==
'''Glucose-6-phosphate dehydrogenase (G6PD) deficiency''' is an [[Sex-linked|X-linked recessive]] [[hereditary disease]] featuring abnormally low levels of the [[G6PD]] enzyme, which plays an important role in [[red blood cell]] function. Individuals with the disease may exhibit non-immune [[hemolytic anemia]] in response to a number of causes. It is closely linked to '''[[favism]]''', a disorder characterized by a hemolytic reaction to consumption of [[Vicia faba|broad bean]]s, with a name derived from the [[Italian language|Italian]] name of the broad bean (''fava''). Sometimes the name, [[favism]], is alternatively used to refer to the enzyme
deficiency as a whole.
==History and Symptoms==
==History and Symptoms==
*The majority of patients with G6PD deficiency are [[asymptomatic]].
===History===
===History===
* Patients are almost exclusively male, due to the [[X-linked]] pattern of inheritance, but female carriers can be clinically affected due to [[lyonization]] where random inactivation of an X-chromosome in certain cells creates a population of [[G6PD]] deficient red cells coexisting with normal red cells.
Patients with G6PD deficiency may have a positive history of:
* History of [[hemolysis|hemolytic]] crises occurs 2-4 days in response to:
*Similar problems in family
** Certain [[medication|drugs]]:
*** [[Primaquine]] (an [[malaria|antimalarial]])
*** [[Sulphonamide]] [[antibiotic]]s
*** Sulphones (e.g. [[dapsone]], used against [[leprosy]])
*** Other sulphur-containing drugs: [[glibenclamide]] (an [[anti-diabetic drug]])
*** [[Nitrofurantoin]] (an [[antibiotic]] often used for [[urinary tract infection]]s)
*** [[Vitamin K]] analogues
*** Several others<ref>{{cite web |url=http://www.rialto.com/g6pd/table2.htm |title=The G6PD Deficiency Homepage -- Table 2 |accessdate=2007-10-28 |format= |work=}}</ref>
*** [[Henna]] can cause a haemolytic crisis in G6PD deficient infants.<ref>{{cite journal |author=Raupp P, Hassan JA, Varughese M, Kristiansson B |title=Henna causes life threatening haemolysis in glucose-6-phosphate dehydrogenase deficiency |journal=Arch. Dis. Child. |volume=85 |issue=5 |pages=411–2 |year=2001 |pmid=11668106 |doi=}}</ref>
** Certain foods, most notably [[broad bean]]s
** Illness (severe infections)
** [[Diabetic ketoacidosis]]


===Symptoms===
===Common Symptoms===
* Symptoms suggestive of anemia such as fatigue, palpitation
Common symptoms of G6PD deficiency include:
* Prolonged [[jaundice]]
*Acute [[intravascular]] [[hemolysis]] 5 to 24 hours after ingestion [[Fava bean|fava]] beans ( [[favism]]):<ref name="pmid29298156">{{cite journal |vauthors=Luzzatto L, Arese P |title=Favism and Glucose-6-Phosphate Dehydrogenase Deficiency |journal=N. Engl. J. Med. |volume=378 |issue=1 |pages=60–71 |date=January 2018 |pmid=29298156 |doi= |url=}}</ref>
* Hemolytic features like dark colored urine
**Most in male children ( ages1-5 years)
* Abdominal or back pain
**[[Headache]]
* Very severe crises can cause [[acute renal failure]]
**[[Nausea]]
**[[Back pain]]
**[[Chills]]
**[[Fever]]
**[[Jaundice]]
**
*Feeling tired
 
===Less Common Symptoms===
Less common symptoms of G6PD deficiency include:<ref name="pmid23841200">{{cite journal |vauthors=Burka ER, Weaver Z, Marks PA |title=Clinical spectrum of hemolytic anemia associated with glucose-6-phosphate dehydrogenase deficiency |journal=Ann. Intern. Med. |volume=64 |issue=4 |pages=817–25 |date=April 1966 |pmid=23841200 |doi= |url=}}</ref>
*[[Acute renal failure]]<ref name="pmid5695625">{{cite journal |vauthors=Whelton A, Donadio JV, Elisberg BL |title=Acute renal failure complicating rickettsial infections in glucose-6-phosphate dehydrogenase-deficient individuals |journal=Ann. Intern. Med. |volume=69 |issue=2 |pages=323–8 |date=August 1968 |pmid=5695625 |doi= |url=}}</ref>
*[[Shortness of breath]]


==References==
==References==
{{reflist|2}}
{{Reflist|2}}


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Latest revision as of 23:20, 19 December 2018

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Overview

The majority of patients with G6PD deficiency are asymptomatic. Common symptoms of G6PD include nausea, back pain, headache, chills. Less common symptoms include acute renal failure and shortness of breath.

History and Symptoms

  • The majority of patients with G6PD deficiency are asymptomatic.

History

Patients with G6PD deficiency may have a positive history of:

  • Similar problems in family

Common Symptoms

Common symptoms of G6PD deficiency include:

Less Common Symptoms

Less common symptoms of G6PD deficiency include:[2]

References

  1. Luzzatto L, Arese P (January 2018). "Favism and Glucose-6-Phosphate Dehydrogenase Deficiency". N. Engl. J. Med. 378 (1): 60–71. PMID 29298156.
  2. Burka ER, Weaver Z, Marks PA (April 1966). "Clinical spectrum of hemolytic anemia associated with glucose-6-phosphate dehydrogenase deficiency". Ann. Intern. Med. 64 (4): 817–25. PMID 23841200.
  3. Whelton A, Donadio JV, Elisberg BL (August 1968). "Acute renal failure complicating rickettsial infections in glucose-6-phosphate dehydrogenase-deficient individuals". Ann. Intern. Med. 69 (2): 323–8. PMID 5695625.

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