Glucose-6-phosphate dehydrogenase deficiency causes
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mahda Alihashemi M.D. [2] [3] [4] [5] [6] [7] [8] [9]
Overview
Disease name] may be caused by [cause1], [cause2], or [cause3].
OR
Common causes of [disease] include [cause1], [cause2], and [cause3].
OR
The most common cause of [disease name] is [cause 1]. Less common causes of [disease name] include [cause 2], [cause 3], and [cause 4].
OR
The cause of [disease name] has not been identified. To review risk factors for the development of [disease name], click here.
Causes
Life-threatening Causes
- Life-threatening causes include conditions which may result in death or permanent disability within 24 hours if left untreated. There are no life-threatening causes of disease name, however complications resulting from untreated disease name is common.
- Life-threatening causes of [symptom/manifestation] include [cause1], [cause2], and [cause3].
- [Cause] is a life-threatening cause of [disease].
Common Causes
G6PD deficiency is an X-linked disorder.
Common causes of G6PD deficiency may include:
- Genetic :
- [Cause2]
- [Cause3]
OR
- [Disease name] is caused by an infection with [pathogen name].
- [Pathogen name] is caused by [pathogen name].
Less Common Causes
Less common causes of G6PD deficiency include:
- Neutrophil dysfunction in severe G6PD deficiency ( <20 percent activity ) [1]
- [Cause2]
- [Cause3]
Genetic Causes
The gene for G6PD is located on the X chromosome (band X q28) [8] and has been cloned and sequenced [9-11]. Even though females have two X chromosomes per cell, males and females have the same enzyme activity in their red cells because one of the X chromosomes in each cell of the female embryo is inactivated and remains inactive throughout subsequent cell divisions (Lyon hypothesis) [12].
G6PD deficiency is expressed in males carrying a variant gene, while heterozygous females are usually clinically normal. However, the mean red blood cell enzyme activity in heterozygous females may be normal, moderately reduced, or grossly deficient depending upon the degree of lyonization and the degree to which the abnormal G6PD variant is expressed [13]. A heterozygous female with 50 percent normal G6PD activity has 50 percent normal red cells and 50 percent G6PD-deficient red cells. The deficient cells are as vulnerable to hemolysis as the enzyme-deficient red blood cells in males.
It is of interest that the incidence of G6PD deficiency in Chinese females ≥80 years of age was several-fold greater than what was expected from population screening at birth [14]. It is thought that this is due to the skewed X-inactivation that occurs with aging.
G6PD and its variants — The monomeric form of G6PD contains 515 amino acids, but the active form of G6PD is a dimer that contains tightly bound NADP [15,16]. Amino acid 205 is the binding site for glucose-6-phosphate, while amino acids 386 and 387 may be involved in binding to NADP [15,17].
The normal or wild-type enzyme is called G6PD B, although over 400 variant enzymes have been identified [15,16,18,19]. By international agreement, standardized methods have been used to characterize these enzyme variants, which differ on the basis of their biochemical properties, such as kinetic activity and the Michaelis constant for its substrate glucose-6-phosphate and cofactor NADP [20,21]. However, differences between some variants are subtle and may not represent true enzyme differences.
The variants are almost all missense point mutations, although a few deletions have been described [15,18]. Large deletions or frame shift mutations have not been identified, suggesting that complete absence of G6PD may be lethal [15]. Most class I variants that are associated with chronic hemolytic anemia have abnormalities in the glucose-6-phosphate binding or NADP binding site of the enzyme (figure 2) [15].
- G6PD deficiency is caused by a mutation in the [gene name] gene.
Causes by Organ System
| Cardiovascular | No underlying causes |
| Chemical/Poisoning | No underlying causes |
| Dental | No underlying causes |
| Dermatologic | No underlying causes |
| Drug Side Effect | No underlying causes |
| Ear Nose Throat | No underlying causes |
| Endocrine | No underlying causes |
| Environmental | No underlying causes |
| Gastroenterologic | No underlying causes |
| Genetic | No underlying causes |
| Hematologic | No underlying causes |
| Iatrogenic | No underlying causes |
| Infectious Disease | No underlying causes |
| Musculoskeletal/Orthopedic | No underlying causes |
| Neurologic | No underlying causes |
| Nutritional/Metabolic | No underlying causes |
| Obstetric/Gynecologic | No underlying causes |
| Oncologic | No underlying causes |
| Ophthalmologic | No underlying causes |
| Overdose/Toxicity | No underlying causes |
| Psychiatric | No underlying causes |
| Pulmonary | No underlying causes |
| Renal/Electrolyte | No underlying causes |
| Rheumatology/Immunology/Allergy | No underlying causes |
| Sexual | No underlying causes |
| Trauma | No underlying causes |
| Urologic | No underlying causes |
| Miscellaneous | No underlying causes |
Causes in Alphabetical Order
List the causes of the disease in alphabetical order:
- Cause 1
- Cause 2
- Cause 3
- Cause 4
- Cause 5
- Cause 6
- Cause 7
- Cause 8
- Cause 9
- Cause 10
References
- ↑ Vives Corrons JL, Feliu E, Pujades MA, Cardellach F, Rozman C, Carreras A, Jou JM, Vallespí MT, Zuazu FJ (February 1982). "Severe-glucose-6-phosphate dehydrogenase (G6PD) deficiency associated with chronic hemolytic anemia, granulocyte dysfunction, and increased susceptibility to infections: description of a new molecular variant (G6PD Barcelona)". Blood. 59 (2): 428–34. PMID 7055648.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [10]; Associate Editor(s)-In-Chief: Priyamvada Singh, M.D. [11]
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Overview
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an 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 broad beans, with a name derived from the Italian name of the broad bean (fava). Sometimes the name, favism, is alternatively used to refer to the enzyme deficiency as a whole.