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$Unique_ID{BRK03497}
$Pretitle{}
$Title{Aspartylglycosaminuria}
$Subject{Aspartylglycosaminuria AGA Aspartylglucosaminuria AGU
Mucopolysaccharidosis Pseudo-Hurler Polydystrophy I-Cell Disease}
$Volume{}
$Log{}
Copyright (C) 1992 National Organization for Rare Disorders, Inc.
918:
Aspartylglycosaminuria
** IMPORTANT **
It is possible that the main title of the article (Aspartylglycosaminuria)
is not the name you expected. Please check the SYNONYM listing to find the
alternate names and disorder subdivisions covered by this article.
Synonyms
AGA
Aspartylglucosaminuria
AGU
Information on the following diseases can be found in the Related
Disorders section of this report:
Mucopolysaccharidosis
Pseudo-Hurler Polydystrophy
I-Cell Disease
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.
Aspartylglycosaminuria is a very rare genetic disorder that is found most
commonly in persons of Finnish decent. However, it is also found in other
heritages around the world. It is a lysosomal storage disease that becomes
apparent after the infant is a few months old. Major symptoms may include
coarse facial features, spine and eye deformities, behavior problems and
mental retardation. The disorder is caused by an glycoprotein enzyme
deficiency.
Symptoms
Aspartylglycosaminuria is a lysosomal storage disease characterized by normal
development during the first months of life after which abnormal development
begins to occur. Diarrhea and infections that keep reoccurring are noticed.
After the first few years facial features begin to get coarse which continues
during the following years. The skeleton may become deformed and the ocular
lens may develop crystalline deposits. Mental deterioration may begin to
occur after age five and behavior problems are common. Lung, heart and blood
problems tend to occur in later years. The patient may show mental
retardation uneven development of the head and face with sagging cheeks, a
wide nose and broad face. The spine may be twisted (scoliosis) and the neck
may be unusually short. Adult stature is usually below normal.
Causes
Aspartylglycosaminuria is a lysosomal storage disease. Lysosomes are cell
particles containing enzymes that degrade large molecules. A deficiency of
the lysosomal enzyme, aspartylglycosamidase, causes the accumulation of
aspartylglucosamine which is stored throughout the body evidently resulting
in disorders in the various body systems.
This disorder is inherited as an autosomal recessive trait. The gene
responsible for this disorder is located on the long arm the 4th chromosome
at 4q21. Persons of Finnish ancestry are most often affected by this
disorder. However, Aspartylglycosaminuria can occur in people of all
heritages.
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. In recessive disorders, the condition does not appear unless a
person inherits the same defective gene from the same trait from each parent.
If one receives one normal gene and one gene for the disease, the person will
be a carrier for the disease, but usually will not show symptoms. The risk
of transmitting the disease to the children of a couple, both of whom are
carriers for a recessive disorder, is twenty-five percent. Fifty percent of
their children will be carriers, but healthy as described above. Twenty-five
percent of their children will receive both normal genes, one from each
parent, and will be genetically normal.
Affected Population
Aspartylglycosaminuria is a rare disorder that affects males and females in
equal numbers. However, in Finland where the majority of cases are reported,
there are an estimated 130 cases in 4.5 million persons. In the rest of the
world, the condition is extremely rare and affects persons of various
heritages.
Related Disorders
Symptoms of the following disorders can be similar to those of
Aspartylglycosaminuria. Comparisons may be useful for a differential
diagnosis:
The Mucopolysaccharidoses (MPS) are a group of hereditary lysosomal
storage diseases. They are characterized by abnormal accumulation of
mucopolysaccharides, especially in the cartilage and bones. These deposits
are also found in the arteries, skeleton, eyes, joints, ears, skin and teeth.
In general these disorders are progressive. The child may appear normal at
birth and around the age of one begin to show signs of both growth and mental
retardation. (For more information on this disorder, choose
"Mucopolysaccharidoses" as your search term in the Rare Disease Database).
Pseudo-Hurler Polydystrophy is an autosomal recessive inherited disorder
characterized by onset in childhood, painless joint stiffness, decreased
mobility, short stature, some coarseness of the facial features, mild mental
retardation, evidence of multiple defective bone formations and aortic valve
disease. (For more information on this disorder, choose "Pseudo-Hurler" as
your search term in the Rare Disease Database).
I-Cell Disease begins very early in life. By the age of six months
children have begun to show symptoms such as coarse facial features, a long
and narrow head, excessive hair growth, and a low forehead. They may also
show severe skeletal changes and mental and physical retardation is common.
(For more information on this disorder, choose "I-Cell" as your search term
in the Rare Disease Database).
Therapies: Standard
Treatment of Aspartylglycosaminuria is symptomatic and supportive. Genetic
counseling may be of benefit for families.
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. Enzyme replacement
is currently difficult to accomplish because they tend to stay in the body
for minutes instead of hours.
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 genetic 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 Aspartylglycosaminuria, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
NIH/National Institute of Diabetes, Digestive & Kidney Diseases
9000 Rockville Pike
Bethesda, MD 20892
(301) 96-3583
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. 1047
THE METABOLIC BASIS OF INHERITED DISEASE, 6th Ed.: Charles R. Scriver, et
al., Editors; McGraw Hill, 1989. Pp. 1608-1616.
BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief;
Blackwell Scientific Publications, 1990. Pp. 198-199.
ASPARTYLGLYCOSAMINURIA IN A NON-FINNISH PATIENT CAUSED BY A DONOR SPLICE
MUTATION THE GLYCOASPARAGINASE GENE., I. Mononen, et al.; J Biol Chem,
February 15, 1992, (issue 267 (5)). Pp. 3196-3199.
HIGH PREVALENCE OF ASPARTYLGLYCOSAMINURIA AMONG SCHOOL-AGE CHILDREN IN
EASTERN FINLAND., T. Mononen, et al.; Hum Genet, July, 1991, (issue 87 (3) ).
Pp. 266-268.
TWO JAPANESE CASES WITH ASPARTYLGLYCOSAMINURIA: CLINICAL AND
MORPHOLOGICAL FEATURES., K. Yoshida, et al.; Clin Genet, October, 1991,
(issue 40 (4)). Pp. 318-325.
ASPARTYLGLYCOSAMINURIA IN THE FINNISH POPULATION: IDENTIFICATION OF TWO
POINT MUTATIONS IN THE HEAVY CHAIN OF GLYCOASPARAGINASE., I. Mononen, et al.;
Proc Natl Acad Sci USA, April 1, 1991, (issue 88 (7)). Pp. 2941-2945.