Glucose-6-Phosphate Dehydrogenase Deficiency
National Organization for Rare Disorders, Inc.
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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.
CLIMB (Children Living with Inherited Metabolic Diseases)
176 Nantwich Road
Crewe, Intl CW2 6BG
Tel: +44 870 7700 325
Fax: +44 870 7700 327
NIH/National Institute of Diabetes, Digestive & Kidney Diseases
Endocrine Diseases Metabolic Diseases Branch
2 Information Way
Bethesda, MD 20892-3570
Parents of Infants and Children with Kernicterus
One Superior Place
Chicago, IL 60610
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
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