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$Unique_ID{BRK04106}
$Pretitle{}
$Title{Phosphoglycerate Kinase Deficiency}
$Subject{Phosphoglycerate Kinase Deficiency PGK Phosphoglycerokinase Anemia
Hemolytic Erythrocyte Phosphoglycerate Kinase Deficiency Anemia Hemolytic Warm
Antibody Anemia Hemolytic Acquired Autoimmune Anemia Sideroblastic Anemia
Aplastic}
$Volume{}
$Log{}
Copyright (C) 1992 National Organization for Rare Disorders, Inc.
914:
Phosphoglycerate Kinase Deficiency
** IMPORTANT **
It is possible that the main title of the article (Phosphoglycerate
Kinase 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
PGK
Phosphoglycerokinase
Anemia, Hemolytic
Erythrocyte Phosphoglycerate Kinase Deficiency
Information on the following diseases can be found in the Related
Disorders section of this report:
Anemia, Hemolytic, Warm Antibody
Anemia, Hemolytic, Acquired Autoimmune
Anemia, Sideroblastic
Anemia, Aplastic
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.
Phosphoglycerate Kinase Deficiency is an extremely rare X-linked genetic
metabolic disorder. Major symptoms may include chronic anemia, neurologic
impairment and muscle problems.
Symptoms
Phosphoglycerate Kinase Deficiency affects males severely. However, one
female demonstrated only anemia. Males may have mild to severe neurologic
dysfunction including possible mental retardation, paralysis, seizures and/or
movement disorders. They may also have behavioral problems, severe anemia
and may even lapse into coma during a crisis. Muscles may be painful and
there may be breakdown of muscle tissue with the passing of red-brown urine.
Weakness, fatigue, and difficulty in exercising may also occur.
Causes
Phosphoglycerate Kinase Deficiency causes an instability in the red blood
cells and neurological problems. This genetic disorder is an X-linked inborn
error of metabolism. The gene is on the long arm of the X chromosome at
Xq13.
Human traits, including the classic genetic diseases, are the product of
the interaction of two genes, one received from the father and one from the
mother. X-linked recessive disorders are conditions which are coded on the X
chromosome. Females have two X chromosomes, but males have one X chromosome
and one Y chromosome. Therefore, in females, disease traits on the X
chromosome can be masked by the normal gene on the other X chromosome. Since
males only have one X chromosome, if they inherit a gene for a disease
present on the X, it will be expressed. Men with X-linked disorders transmit
the gene to all their daughters, who are carriers, but never to their sons.
Women who are carriers of an X-linked disorder have a fifty percent risk of
transmitting the carrier condition to their daughters, and a fifty percent
risk of transmitting the disease to their sons.
Affected Population
Phosphoglycerate Kinase Deficiency is a very rare disorder that affects both
males and females. Males have a more serious form of the disorder. The
disorder can be diagnosed at birth when enzymatic testing is done. Only
approximately 12 persons with PGK deficiency have been noted in the medical
literature. A large Chinese family of several generations has been studied
and other persons of other nationalities have also participated in genetic
studies of the disorder. There may be more people affected but symptoms can
be so minor as to go undiagnosed.
Related Disorders
Symptoms of the following disorders can be similar to those of
Phosphoglycerate Kinase Deficiency. Comparisons may be useful for a
differential diagnosis:
Warm Antibody Hemolytic Anemia is an autoimmune disorder characterized by
the premature destruction of red blood cells by the body's natural defenses
against invading organisms (antibodies). The severity of the anemia is
determined by the amount of time the red blood cells survive. (For more
information on this disorder, choose "Warm Antibody, Hemolytic Anemia" as
your search term in the Rare Disease Database).
Acquired Autoimmune Hemolytic Anemia is an autoimmune disorder
characterized by the premature destruction of red blood cells. It occurs in
individuals who previously had a normal red blood cell system. The disorder
commonly occurs as the result of, or in conjunction with some other medical
condition. (For more information on this disorder, choose "Acquired
Autoimmune Hemolytic Anemia" as your search term in the Rare Disease
Database).
Sideroblastic Anemia is a blood disorder characterized by an impaired
ability of the bone marrow to produce normal red blood cells. It is
characterized by general weakness, fatigue and difficulty breathing. (For
more information on this disorder, choose "Sideroblastic Anemia" as your
search term in the Rare Disease Database).
Aplastic Anemia is characterized by bone marrow failure. The disorder
may occur for unknown reasons (idiopathic) or it may be the result of a toxic
reaction to radiation, certain drugs, or chemicals. The patient may first
become aware of the disease by the progressive onset of weakness, fatigue,
and lassitude. (For more information on this disorder, choose "Aplastic
Anemia" as your search term in the Rare Disease Database).
Therapies: Standard
Treatment of Phosphoglycerate Kinase Deficiency may consist of iron
supplements and blood transfusions when needed. The disorder is apparent at
birth when enzymatic testing of the blood is done. The avoidance of
strenuous exercise when evidence that muscle breakdown has taken place is
very important and special care is needed during neurologic crisis to avoid
life-threatening situations.
Genetic counseling may be of benefit for patients and their families.
Other treatment is symptomatic and supportive.
Therapies: Investigational
Research on inborn errors of metabolism is ongoing. Scientists are studying
the causes of these disorders and trying to design enzyme replacement
therapies that will return a missing enzyme to the body.
The National Institutes of Health (NIH) is sponsoring the Human Genome
Project which is aimed at mapping every gene in the human body and learning
why they sometimes malfunction. It is hoped that this new knowledge will
lead to prevention and treatment of hereditary disorders in the future.
This disease entry is based upon medical information available through
May 1992. 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 Phosphoglycerate Kinase Deficiency, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
NIH/National Heart, Lung and Blood Institute
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-4236
Research Trust for Metabolic Diseases in Children
Golden Gates Lodge, Weston Road
Crewe CW1 1XN, England
(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, 9th Ed.: Victor A. McKusick, Editor: Johns
Hopkins University Press, 1990. Pp. 1422, 1704.
THE METABOLIC BASIS OF INHERITED DISEASE, 6th Ed.: Charles R. Scriver, et
al., Editors; McGraw Hill, 1989. P. 2351.
HEMATOLOGY, 4th Ed,: William J. Williams, et al,; Editors; McGraw-Hill,
Inc., P. 359.
BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief;
Blackwell Scientific Publications, 1990. P. 127.
X-LINKED SIDEROBLASTIC ANEMIA AND ATAXIA: LINKAGE TO PHOSPHOGLYCERATE
KINASE AT Xq13., W.H. Raskind, et al.; Am J Hum Genet, February, 1991, (issue
48 (2)). Pp. 335-341.
CLONALITY IN MYELOPROLIFERATIVE DISORDERS: ANALYSIS BY MEANS OF THE
POLYMERASE CHAIN REACTION., D.G. Gilliland, et al.; Proc Natl Acad Sci USA,
August 1, 1991, (issue 88 (15)). Pp. 6848-6852.
RED CELL ENZYMOPATHIES OF THE GLYCOLYTIC PATHWAY., K.R. Tanaka, et al.;
Semin Hematol, April, 1990, (issue 27 (2)). Pp. 165-185.