Glucose-6-Phosphate Dehydrogenase Deficiency

Synonyms

• G6PD Deficiency

Disorder Subdivisions

• None

General Discussion

Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency (G6PDD) is an inherited, sex-linked, metabolic disorder characterized by an enzyme defect that leads to the breakdown of red blood cells (hemolysis) upon exposure to stresses associated with some bacterial infections or certain drugs. A deficiency of this enzyme may result in the premature destruction of red blood cells (an acute hemolytic anemia or a chronic spherocytic type) when an affected individual is exposed to certain medications or chemicals, experiences certain viral or bacterial infections, and/or inhales the pollen of, or consumes, fava beans (favism).

Glucose- 6-Phosphate Dehydrogenase Deficiency is inherited as an X-linked genetic trait. It is a common inborn error of metabolism among humans. More than 300 variants of the disorder have been identified, resulting from mutations of the Glucose-6-Phosphate Dehydrogenase gene. The severity of symptoms associated with G6PD Deficiency may vary greatly among affected individuals, depending upon the specific form of the disorder that is present.

Neonatal G6PDD is particularly dangerous to an infant. It is manageable if caught early, and screening for the disorder is common.

The role of the enzyme G6PD is to maintain the pathway to generate a chemical called glutathione, which in a particular form is an antioxidant. The antioxidant is necessary to protect the cell’s hemoglobin and its cell wall (red cell membrane). If the level of antioxidant is too low, then the cell’s hemoglobin will not bind oxygen (its main purpose); the cell wall will break allowing the cell contents, including the modified hemoglobin, to spill out.
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Resources

CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe, Intl CW2 6BG
United Kingdom
Tel: +44 870 7700 325
Fax: +44 870 7700 327
Email: info@climb.org.uk
Internet: http://www.CLIMB.org.uk

NIH/National Institute of Diabetes, Digestive & Kidney Diseases
Endocrine Diseases Metabolic Diseases Branch
2 Information Way
Bethesda, MD 20892-3570
Tel: (301)654-3810
Fax: (301)496-7422
Email: NDDIC@info.niddk.nih.gov
Internet: http://www.niddk.nih.gov

Parents of Infants and Children with Kernicterus
One Superior Place
Suite 2410
Chicago, IL 60610
USA
Tel: 3122749695
Email: karendixon@pickonline.org
Internet: http://www.PICKonline.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated: 6/23/2005
Copyright 1990, 1995, 1998, 2002 National Organization for Rare Disorders, Inc.