Glucose-6-Phosphate Dehydrogenase Deficiency
You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.
Synonyms of Glucose-6-Phosphate Dehydrogenase Deficiency
- G6PD Deficiency
- No subdivisions found.
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.
Organizations related to Glucose-6-Phosphate Dehydrogenase Deficiency
The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.
The National Organization for Rare Disorders (NORD) web site, its databases, and the contents thereof are copyrighted by NORD. No part of the NORD web site, databases, or the contents may be copied in any way, including but not limited to the following: electronically downloading, storing in a retrieval system, or redistributing for any commercial purposes without the express written permission of NORD. Permission is hereby granted to print one hard copy of the information on an individual disease for your personal use, provided that such content is in no way modified, and the credit for the source (NORD) and NORD’s copyright notice are included on the printed copy. Any other electronic reproduction or other printed versions is strictly prohibited.
Copyright 1990, 1995, 1998, 2002
NORD's Rare Disease Information Database is copyrighted and may not be published without the written consent of NORD.