home
***
CD-ROM
|
disk
|
FTP
|
other
***
search
/
CD-ROM Today (UK) (Spanish) 15
/
CDRT.iso
/
dp
/
0377
/
03773.txt
< prev
next >
Wrap
Text File
|
1994-01-17
|
10KB
|
214 lines
$Unique_ID{BRK03773}
$Pretitle{}
$Title{Glucose-6-Phosphate Dehydrogenase Deficiency}
$Subject{Glucose-6-Phosphate Dehydrogenase Deficiency G6PD Deficiency Favism
Acute Hemolytic Anemia}
$Volume{}
$Log{}
Copyright (C) 1990 National Organization for Rare Disorders, Inc.
774:
Glucose-6-Phosphate Dehydrogenase Deficiency
** IMPORTANT **
It is possible that the main title of the article (Glucose-6-Phosphate
Dehydrogenase Deficiency) is not the name you expected. Please check the
SYNONYM listing to find the alternate names and disorder subdivisions covered
by this article.
Synonyms
G6PD Deficiency
Information on the following diseases can be found in the Related
Disorders section of this report:
Favism
Acute Hemolytic Anemia
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for
educational purposes only. It should not be used for diagnostic or treatment
purposes. If you wish to obtain more information about this disorder, please
contact your personal physician and/or the agencies listed in the "Resources"
section of this report.
Glucose-6-Phosphate Dehydrogenase Deficiency is an inherited metabolic
disorder which may never produce any symptoms in affected individuals.
However, the disorder may be the cause of other serious medical conditions.
Glucose-6-Phosphate Dehydrogenase is an enzyme that is found in all cells
and is essential in sugar (glucose) metabolism. It also provides red blood
cells with defense against destruction by certain drugs. A deficiency of
this enzyme may result in the premature destruction of red blood cells
(Hemolytic Anemia) or a serious reaction to the consumption of fava beans
(Favism).
Symptoms
Most individuals with Glucose-6-Phosphate Dehydrogenase Deficiency show no
symptoms. When symptoms do occur, they are usually similar to those of Acute
Hemolytic Anemia including chills, fever, shock and pain in the back and
abdomen. Symptoms may vary in intensity, ranging from a chronic but mild
form of anemia to a life-threatening condition characterized by the passing
of blood in the urine (hemoglobinuria) which can lead to shock and kidney
failure. (For more information on Acute Hemolytic Anemia, see the related
disorders section of this report.)
Drugs which may cause an episode of Acute Hemolytic Anemia in individuals
with G6PD Deficiency include Acetanilid, Nalidixic Acid, Nitrofurantoin,
Phenylhydrazine, Sulfanilimide, Toluidine Blue, Methylene Blue, Naphthalene,
Pamaquine, Sulfacetamide, Sulfapyridine, Trinitrotoluene, Primaquine,
Niridazole, Pentaquine, Sulfamethoxazole and Thiacolesulfone. Aspirin,
certain derivatives of vitamin K, eating fava beans, contracting acute viral
or bacterial infections and diabetes acidosis may also cause an attack of
Acute Hemolytic Anemia in people with G6PD Deficiency.
Causes
Glucose-6-Phosphate Dehydrogenase Deficiency is inherited as an X-linked
genetic trait. (Human traits including the classic genetic diseases, are
the product of the interaction of two genes for that condition, one received
from the father and one from the mother. X-linked disorders are conditions
which are coded on the X chromosome. Females have two X chromosomes and
males have one X chromosome and one Y chromosome. The affected male always
has a more severe form of an X-linked disorder because they do not have a
normal X chromosome to compensate for the genetic defect.
Affected Population
Glucose-6-Phosphate Dehydrogenase Deficiency is one of the most common forms
of enzyme deficiency. It is estimated to affect 400 million people in the
world with the highest rates of prevalence occurring in tropical Africa, the
Middle East, tropical and subtropical Asia, areas of the Mediterranean and
New Guinea. Over 300 different varieties of this disorder have been
identified, resulting from mutations of the Glucose-6-Phosphate Dehydrogenase
gene. Certain varieties are more common in the American Black male
population. It is rarely diagnosed because most people do not experience
serious symptoms unless they are exposed to certain drugs.
Related Disorders
The following disorders may be associated with Glucose-6-Phosphate
Dehydrogenase Deficiency as secondary characteristics. They are not
necessary for a differential diagnosis:
Favism is a disorder which occurs following the consumption of fava beans
or the inhalation of the pollen from the fava plant flower. It occurs in
certain individuals with the genetic enzyme abnormality, Glucose-6-Phosphate
Dehydrogenase Deficiency (G6PD Deficiency). It is believed that the
chemicals divicine and isouramil, which are found in high concentrations in
fava beans, are responsible for the severe reaction in G6PD deficient
individuals. Favism usually has a sudden onset, occurring only minutes after
inhaling the fava pollen, or within 5 to 24 hours after eating fava beans.
Symptoms include fever, jaundice, pallor, increased heart rate, dark red
urine, headache, severe anemia and possibly coma. Affected individuals also
become weak and suffer pain in the back and abdomen.
Acute Hemolytic Anemia is a disorder characterized by the premature
destruction of red blood cells. Normally red blood cells have a life span of
approximately 120 days before they are removed by the spleen. In an
individual affected with Acute Hemolytic Anemia, the red blood cells are
destroyed prematurely and bone marrow production of new cells can no longer
compensate for their loss. Individuals with Glucose-6-Phosphate
Dehydrogenase Deficiency are highly susceptible to Acute Hemolytic Anemia,
which may be triggered by the use of certain medications. Symptoms of Acute
Hemolytic Anemia may include chills, fever, shock and pain in the back and
abdomen. Treatment is individualized and may include iron replacement
therapy or removal of the spleen (splenectomy). (For more information on
this disorder, choose "Acquired Autoimmune Hemolytic Anemia" as your search
term in the Rare Disease Database.)
Therapies: Standard
Glucose-6-Phosphate Dehydrogenase Deficiency is best managed by preventative
measures. Individuals should be screened for the G6PD defect before being
treated with certain drugs such as antimalarials and other drugs including
Acetanilid, Nalidixic Acid, Nitrofurantoin, Phenylhydrazine, Sulfanilimide,
Toluidine Blue, Methylene Blue, Naphthalene, Pamaquine, Sulfacetamide,
Sulfapyridine, Trinitrotoluene, Primaquine, Niridazole, Pentaquine,
Sulfamethoxazole and Thiazolesulfone. If red blood cells are being destroyed
(hemolysis), the causative drug should be discontinued under a physician's
supervision and good hydration maintained.
People with G6PD Deficiency should not eat fava beans, nor be exposed to
areas where fava beans grow.
Genetic counseling may be of benefit for patients and their families.
Other treatment is symptomatic and supportive.
Therapies: Investigational
This disease entry is based upon medical information available through April
1990. 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.
Resources
For more information on Glucose-6-Phosphate Dehydrogenase Deficiency, please
contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
National Digestive Diseases Information Clearinghouse
P.O. Box NDDIC
Bethesda, MD 20892
(301) 468-6344
Research Trust for Metabolic Diseases in Children
Golden Gates Lodge, Weston Rd.
Crewe CW1 1XN, England
Telephone: (0270) 250244
For genetic information and genetic counseling referrals:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins
University Press, 1986. Pp. 1281-1282.
INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown
and Co., 1987. Pp. 1052-1054.
THE MERCK MANUAL, Volume 1, 14th Ed.: Robert Berkow, M.D., ed.-in-chief;
Merck Sharp & Dohme Laboratories, 1982. Pp. 1119, 2455.
THE SUITABILITY OF SALIVA FOR DETECTION OF GLUCOSE-6-PHOSPHATE
DEHYDROGENASE DEFICIENCY. A. H. Beaumont et al.; MOL BIOL REP (1988: ISSUE
13 (2)). Pp. 73-78.
CHRONIC NONSPHEROCYTIC HEMOLYTIC ANEMIA (CNSHA) AND GLUCOSE 6 PHOSPHATE
DEHYDROGENASE (G6PD) DEFICIENCY IN A PATIENT WITH FAMILIAL AMYLOIDOTIC
POLYNEUROPATHY (FAP). MOLECULAR STUDY OF A NEW VARIANT (G6PD CLINIC) WITH
MARKEDLY ACIDIC PH OPTIMUM. J.L. Vives-Corrons et al.; HUM GENET (January,
1989: issue 81 (2)). Pp. 161-164.
TOLERABILITY OF TIAPROFENIC ACID IN PATIENTS WITH GLUCOSE-6-PHOSPHATE
DEHYDROGENASE (G6PD) DEFICIENCY. Q. Mela et al.; DRUGS (1988: issue 35
supplement 1). Pp. 107-110.
DIVERSE POINT MUTATIONS IN THE HUMAN GLUCOSE-6-PHOSPHATE DEHYDROGENASE
GENE CAUSE ENZYME DEFICIENCY AND MILD OR SEVERE HEMOLYTIC ANEMIA. T.J.
Vulliamy et al.; PROC NATL ACAD SCI USA (July, 1988: issue 85 (14)). Pp.
5171-5175.