Glucose-6-phosphate dehydrogenase deficiency causes: Difference between revisions
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{{Glucose-6-phosphate dehydrogenase deficiency}} | {{Glucose-6-phosphate dehydrogenase deficiency}} | ||
{{CMG}}; {{AE}}{{MA}} | {{CMG}}; {{AE}}{{MA}} [mailto:malihash@bidmc.harvard.edu] | ||
==Overview== | ==Overview== | ||
The most common cause of G6PD deficiency is due to genetic disorder. Less common cause of G6PD deficiency include neutrophil dysfunction. | The most common cause of G6PD deficiency is due to genetic disorder. Less common cause of G6PD deficiency include neutrophil dysfunction. | ||
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===Common Causes=== | ===Common Causes=== | ||
Common cause of G6PD deficiency may include: | Common cause of G6PD deficiency may include: | ||
* Genetic: G6PD deficiency is an X-linked disorder | * Genetic: G6PD deficiency is an [[X-linked]] disorder | ||
===Less Common Causes=== | ===Less Common Causes=== | ||
Less common causes of G6PD deficiency | Less common causes of G6PD deficiency include: | ||
* Neutrophil dysfunction in severe G6PD deficiency ( <20 percent activity ) <ref name="pmid7055648">{{cite journal |vauthors=Vives Corrons JL, Feliu E, Pujades MA, Cardellach F, Rozman C, Carreras A, Jou JM, Vallespí MT, Zuazu FJ |title=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) |journal=Blood |volume=59 |issue=2 |pages=428–34 |date=February 1982 |pmid=7055648 |doi= |url=}}</ref> | * [[Neutrophil]] dysfunction in severe G6PD deficiency ( <20 percent activity ) <ref name="pmid7055648">{{cite journal |vauthors=Vives Corrons JL, Feliu E, Pujades MA, Cardellach F, Rozman C, Carreras A, Jou JM, Vallespí MT, Zuazu FJ |title=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) |journal=Blood |volume=59 |issue=2 |pages=428–34 |date=February 1982 |pmid=7055648 |doi= |url=}}</ref> | ||
* | * | ||
===Genetic Causes=== | ===Genetic Causes=== | ||
The gene G6PD is located in the distal long arm of the X chromosome at the Xq28 locus. G6PD B, is the wild type or normal.<ref name="pmid7949118">{{cite journal |vauthors=Beutler E |title=G6PD deficiency |journal=Blood |volume=84 |issue=11 |pages=3613–36 |date=December 1994 |pmid=7949118 |doi= |url=}}</ref> | The gene G6PD is located in the distal long arm of the [[X chromosome]] at the Xq28 [[Locus (genetics)|locus]]. G6PD B, is the wild type or normal.<ref name="pmid7949118">{{cite journal |vauthors=Beutler E |title=G6PD deficiency |journal=Blood |volume=84 |issue=11 |pages=3613–36 |date=December 1994 |pmid=7949118 |doi= |url=}}</ref> | ||
The development of G6PD deficency is the result of [[Missense mutation|missense]] point mutations and also a few deletions<ref name="pmid2190319">{{cite journal |vauthors=Beutler E |title=The genetics of glucose-6-phosphate dehydrogenase deficiency |journal=Semin. Hematol. |volume=27 |issue=2 |pages=137–64 |date=April 1990 |pmid=2190319 |doi= |url=}}</ref> | The development of G6PD deficency is the result of [[Missense mutation|missense]] point [[Mutation|mutations]] and also a few deletions<ref name="pmid2190319">{{cite journal |vauthors=Beutler E |title=The genetics of glucose-6-phosphate dehydrogenase deficiency |journal=Semin. Hematol. |volume=27 |issue=2 |pages=137–64 |date=April 1990 |pmid=2190319 |doi= |url=}}</ref> | ||
* | * | ||
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List the causes of the disease in alphabetical order: | List the causes of the disease in alphabetical order: | ||
* Genitic | * Genitic | ||
* Neutrophil dysfunction | * [[Neutrophil]] dysfunction | ||
<div style="-moz-column-count:3; column-count:3;"></div> | <div style="-moz-column-count:3; column-count:3;"></div> | ||
Latest revision as of 17:03, 27 August 2018
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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]
Overview
The most common cause of G6PD deficiency is due to genetic disorder. Less common cause of G6PD deficiency include neutrophil dysfunction.
Causes
Common Causes
Common cause of G6PD deficiency may include:
- Genetic: G6PD deficiency is an X-linked disorder
Less Common Causes
Less common causes of G6PD deficiency include:
- Neutrophil dysfunction in severe G6PD deficiency ( <20 percent activity ) [1]
Genetic Causes
The gene G6PD is located in the distal long arm of the X chromosome at the Xq28 locus. G6PD B, is the wild type or normal.[2]
The development of G6PD deficency is the result of missense point mutations and also a few deletions[3]
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 | X-linked disorder |
| 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:
- Genitic
- Neutrophil dysfunction
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.
- ↑ Beutler E (December 1994). "G6PD deficiency". Blood. 84 (11): 3613–36. PMID 7949118.
- ↑ Beutler E (April 1990). "The genetics of glucose-6-phosphate dehydrogenase deficiency". Semin. Hematol. 27 (2): 137–64. PMID 2190319.