Fabry Disease Information Page

Fabry Disease Information Page


What research is being done?

The NINDS supports research to find ways to treat and prevent lipid storage diseases such as Fabry disease.  Researchers hope to identify biomarkers -- signs that may indicate risk of a disease and improve diagnosis -- for Fabry disease and other lipid storage diseases that will speed the development of novel therapeutics for these disorders. One NINDS-funded project is evaluating a rat model of Fabry disease, through which researchers hope to develop new proteins to increase the potency of enzyme replacement therapy.

Get information from the National Library of Medicine’s MedlinePlus
Genetic Brain Disorders

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What research is being done?

The NINDS supports research to find ways to treat and prevent lipid storage diseases such as Fabry disease.  Researchers hope to identify biomarkers -- signs that may indicate risk of a disease and improve diagnosis -- for Fabry disease and other lipid storage diseases that will speed the development of novel therapeutics for these disorders. One NINDS-funded project is evaluating a rat model of Fabry disease, through which researchers hope to develop new proteins to increase the potency of enzyme replacement therapy.

Get information from the National Library of Medicine’s MedlinePlus
Genetic Brain Disorders

The NINDS supports research to find ways to treat and prevent lipid storage diseases such as Fabry disease.  Researchers hope to identify biomarkers -- signs that may indicate risk of a disease and improve diagnosis -- for Fabry disease and other lipid storage diseases that will speed the development of novel therapeutics for these disorders. One NINDS-funded project is evaluating a rat model of Fabry disease, through which researchers hope to develop new proteins to increase the potency of enzyme replacement therapy.

Get information from the National Library of Medicine’s MedlinePlus
Genetic Brain Disorders

Search Disorders

Definition
Definition
Treatment
Treatment
Prognosis
Prognosis
Clinical Trials
Clinical Trials
Organizations
Organizations
Publications
Publications
Definition
Definition

Fabry disease is caused by the lack of or faulty enzyme needed to metabolize lipids, fat-like substances that include oils, waxes, and fatty acids.  The disease is also called alpha-galactosidase-A deficiency.  A mutation in the gene that controls this enzyme causes insufficient breakdown of lipids, which build up to harmful levels in the autonomic nervous system (which controls involuntary functions such as breathing and digestion), cardiovascular system, eyes, and kidneys.  Symptoms usually begin during childhood or adolescence and include burning sensations in the arms and legs that gets worse with exercise and hot weather and small, non-cancerous, raised reddish-purple blemishes on the skin.  Excess material buildup can lead to clouding in the corneas.  Lipid storage may lead to impaired blood circulation and increased risk of heart attack or stroke.  The heart may also become enlarged and the kidneys may become progressively impaired, leading to renal failure.  Other signs include decreased sweating, fever, and gastrointestinal difficulties. Fabry disease is the only X-linked lipid storage disease (where the mother carries the affected gene on the X chromosome that determines the child's gender and passes it to her son). Boys have a 50 percent chance of inheriting the disorder and her daughters have a 50 percent chance of being a carrier.  A milder form is common in females, and occasionally some affected females may have severe symptoms similar to males with the disorder.  

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Definition

Fabry disease is caused by the lack of or faulty enzyme needed to metabolize lipids, fat-like substances that include oils, waxes, and fatty acids.  The disease is also called alpha-galactosidase-A deficiency.  A mutation in the gene that controls this enzyme causes insufficient breakdown of lipids, which build up to harmful levels in the autonomic nervous system (which controls involuntary functions such as breathing and digestion), cardiovascular system, eyes, and kidneys.  Symptoms usually begin during childhood or adolescence and include burning sensations in the arms and legs that gets worse with exercise and hot weather and small, non-cancerous, raised reddish-purple blemishes on the skin.  Excess material buildup can lead to clouding in the corneas.  Lipid storage may lead to impaired blood circulation and increased risk of heart attack or stroke.  The heart may also become enlarged and the kidneys may become progressively impaired, leading to renal failure.  Other signs include decreased sweating, fever, and gastrointestinal difficulties. Fabry disease is the only X-linked lipid storage disease (where the mother carries the affected gene on the X chromosome that determines the child's gender and passes it to her son). Boys have a 50 percent chance of inheriting the disorder and her daughters have a 50 percent chance of being a carrier.  A milder form is common in females, and occasionally some affected females may have severe symptoms similar to males with the disorder.  

Treatment
Treatment

Fabry disease is caused by the lack of or faulty enzyme needed to metabolize lipids, fat-like substances that include oils, waxes, and fatty acids.  The disease is also called alpha-galactosidase-A deficiency.  A mutation in the gene that controls this enzyme causes insufficient breakdown of lipids, which build up to harmful levels in the autonomic nervous system (which controls involuntary functions such as breathing and digestion), cardiovascular system, eyes, and kidneys.  Symptoms usually begin during childhood or adolescence and include burning sensations in the arms and legs that gets worse with exercise and hot weather and small, non-cancerous, raised reddish-purple blemishes on the skin.  Excess material buildup can lead to clouding in the corneas.  Lipid storage may lead to impaired blood circulation and increased risk of heart attack or stroke.  The heart may also become enlarged and the kidneys may become progressively impaired, leading to renal failure.  Other signs include decreased sweating, fever, and gastrointestinal difficulties. Fabry disease is the only X-linked lipid storage disease (where the mother carries the affected gene on the X chromosome that determines the child's gender and passes it to her son). Boys have a 50 percent chance of inheriting the disorder and her daughters have a 50 percent chance of being a carrier.  A milder form is common in females, and occasionally some affected females may have severe symptoms similar to males with the disorder.  

×
Treatment

Fabry disease is caused by the lack of or faulty enzyme needed to metabolize lipids, fat-like substances that include oils, waxes, and fatty acids.  The disease is also called alpha-galactosidase-A deficiency.  A mutation in the gene that controls this enzyme causes insufficient breakdown of lipids, which build up to harmful levels in the autonomic nervous system (which controls involuntary functions such as breathing and digestion), cardiovascular system, eyes, and kidneys.  Symptoms usually begin during childhood or adolescence and include burning sensations in the arms and legs that gets worse with exercise and hot weather and small, non-cancerous, raised reddish-purple blemishes on the skin.  Excess material buildup can lead to clouding in the corneas.  Lipid storage may lead to impaired blood circulation and increased risk of heart attack or stroke.  The heart may also become enlarged and the kidneys may become progressively impaired, leading to renal failure.  Other signs include decreased sweating, fever, and gastrointestinal difficulties. Fabry disease is the only X-linked lipid storage disease (where the mother carries the affected gene on the X chromosome that determines the child's gender and passes it to her son). Boys have a 50 percent chance of inheriting the disorder and her daughters have a 50 percent chance of being a carrier.  A milder form is common in females, and occasionally some affected females may have severe symptoms similar to males with the disorder.  

Definition
Definition

Fabry disease is caused by the lack of or faulty enzyme needed to metabolize lipids, fat-like substances that include oils, waxes, and fatty acids.  The disease is also called alpha-galactosidase-A deficiency.  A mutation in the gene that controls this enzyme causes insufficient breakdown of lipids, which build up to harmful levels in the autonomic nervous system (which controls involuntary functions such as breathing and digestion), cardiovascular system, eyes, and kidneys.  Symptoms usually begin during childhood or adolescence and include burning sensations in the arms and legs that gets worse with exercise and hot weather and small, non-cancerous, raised reddish-purple blemishes on the skin.  Excess material buildup can lead to clouding in the corneas.  Lipid storage may lead to impaired blood circulation and increased risk of heart attack or stroke.  The heart may also become enlarged and the kidneys may become progressively impaired, leading to renal failure.  Other signs include decreased sweating, fever, and gastrointestinal difficulties. Fabry disease is the only X-linked lipid storage disease (where the mother carries the affected gene on the X chromosome that determines the child's gender and passes it to her son). Boys have a 50 percent chance of inheriting the disorder and her daughters have a 50 percent chance of being a carrier.  A milder form is common in females, and occasionally some affected females may have severe symptoms similar to males with the disorder.  

Treatment
Treatment

Fabry disease is caused by the lack of or faulty enzyme needed to metabolize lipids, fat-like substances that include oils, waxes, and fatty acids.  The disease is also called alpha-galactosidase-A deficiency.  A mutation in the gene that controls this enzyme causes insufficient breakdown of lipids, which build up to harmful levels in the autonomic nervous system (which controls involuntary functions such as breathing and digestion), cardiovascular system, eyes, and kidneys.  Symptoms usually begin during childhood or adolescence and include burning sensations in the arms and legs that gets worse with exercise and hot weather and small, non-cancerous, raised reddish-purple blemishes on the skin.  Excess material buildup can lead to clouding in the corneas.  Lipid storage may lead to impaired blood circulation and increased risk of heart attack or stroke.  The heart may also become enlarged and the kidneys may become progressively impaired, leading to renal failure.  Other signs include decreased sweating, fever, and gastrointestinal difficulties. Fabry disease is the only X-linked lipid storage disease (where the mother carries the affected gene on the X chromosome that determines the child's gender and passes it to her son). Boys have a 50 percent chance of inheriting the disorder and her daughters have a 50 percent chance of being a carrier.  A milder form is common in females, and occasionally some affected females may have severe symptoms similar to males with the disorder.  

Prognosis
Prognosis

Individuals with Fabry disease often die prematurely of complications from strokes, heart disease, or kidney failure.

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Individuals with Fabry disease often die prematurely of complications from strokes, heart disease, or kidney failure.

Prognosis
Prognosis

Individuals with Fabry disease often die prematurely of complications from strokes, heart disease, or kidney failure.

Definition

Fabry disease is caused by the lack of or faulty enzyme needed to metabolize lipids, fat-like substances that include oils, waxes, and fatty acids.  The disease is also called alpha-galactosidase-A deficiency.  A mutation in the gene that controls this enzyme causes insufficient breakdown of lipids, which build up to harmful levels in the autonomic nervous system (which controls involuntary functions such as breathing and digestion), cardiovascular system, eyes, and kidneys.  Symptoms usually begin during childhood or adolescence and include burning sensations in the arms and legs that gets worse with exercise and hot weather and small, non-cancerous, raised reddish-purple blemishes on the skin.  Excess material buildup can lead to clouding in the corneas.  Lipid storage may lead to impaired blood circulation and increased risk of heart attack or stroke.  The heart may also become enlarged and the kidneys may become progressively impaired, leading to renal failure.  Other signs include decreased sweating, fever, and gastrointestinal difficulties. Fabry disease is the only X-linked lipid storage disease (where the mother carries the affected gene on the X chromosome that determines the child's gender and passes it to her son). Boys have a 50 percent chance of inheriting the disorder and her daughters have a 50 percent chance of being a carrier.  A milder form is common in females, and occasionally some affected females may have severe symptoms similar to males with the disorder.  

Treatment

Fabry disease is caused by the lack of or faulty enzyme needed to metabolize lipids, fat-like substances that include oils, waxes, and fatty acids.  The disease is also called alpha-galactosidase-A deficiency.  A mutation in the gene that controls this enzyme causes insufficient breakdown of lipids, which build up to harmful levels in the autonomic nervous system (which controls involuntary functions such as breathing and digestion), cardiovascular system, eyes, and kidneys.  Symptoms usually begin during childhood or adolescence and include burning sensations in the arms and legs that gets worse with exercise and hot weather and small, non-cancerous, raised reddish-purple blemishes on the skin.  Excess material buildup can lead to clouding in the corneas.  Lipid storage may lead to impaired blood circulation and increased risk of heart attack or stroke.  The heart may also become enlarged and the kidneys may become progressively impaired, leading to renal failure.  Other signs include decreased sweating, fever, and gastrointestinal difficulties. Fabry disease is the only X-linked lipid storage disease (where the mother carries the affected gene on the X chromosome that determines the child's gender and passes it to her son). Boys have a 50 percent chance of inheriting the disorder and her daughters have a 50 percent chance of being a carrier.  A milder form is common in females, and occasionally some affected females may have severe symptoms similar to males with the disorder.  

Prognosis

Individuals with Fabry disease often die prematurely of complications from strokes, heart disease, or kidney failure.

What research is being done?

The NINDS supports research to find ways to treat and prevent lipid storage diseases such as Fabry disease.  Researchers hope to identify biomarkers -- signs that may indicate risk of a disease and improve diagnosis -- for Fabry disease and other lipid storage diseases that will speed the development of novel therapeutics for these disorders. One NINDS-funded project is evaluating a rat model of Fabry disease, through which researchers hope to develop new proteins to increase the potency of enzyme replacement therapy.

Get information from the National Library of Medicine’s MedlinePlus
Genetic Brain Disorders

Patient Organizations
Fabry Support & Information Group
108 NE 2nd Street, Ste. C
P.O. Box 510
Concordia
MO
Concordia, MO 64020-0510
Tel: 660-463-1355
National Fabry Disease Foundation
4301 Connecticut Avenue, NW
Suite 404
Washington
DC
Washington, DC 20008-2369
Tel: 800-651-9131
National Organization for Rare Disorders (NORD)
55 Kenosia Avenue
Danbury
CT
Danbury, CT 06810
Tel: 203-744-0100; Voice Mail: 800-999-NORD (6673)
National Tay-Sachs and Allied Diseases Association
2001 Beacon Street
Suite 204
Boston
MA
Boston, MA 02135
Tel: 800-90-NTSAD (906-8723)
Patient Organizations