Lipid Storage Diseases Information Page

Lipid Storage Diseases Information Page


What research is being done?

NINDS and other institutes of the National Institutes of Health (NIH) conduct research related to lipid storage diseases in laboratories at the NIH and also support additional research through grants to major medical institutions across the country.  NINDS researchers were responsible for developing effective enzyme replacement therapies for Gaucher and Fabry diseases.  NINDS-funded scientists continue to study how lipids accumulate in cells and why they cause harm to the body, and on the development of new treatments targeting disease mechanisms, including gene therapies, cell-based therapies, and pharmacological approaches.  The NINDS, along with other Institutes and Centers of the National Institutes of Health, supports the Lysosomal Disease Network, a network of centers that address some of the major challenges in the diagnosis, management, and therapy of rare diseases, including the lipid storage diseases.

Information from the National Library of Medicine’s MedlinePlus
Metabolic Disorders

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What research is being done?

NINDS and other institutes of the National Institutes of Health (NIH) conduct research related to lipid storage diseases in laboratories at the NIH and also support additional research through grants to major medical institutions across the country.  NINDS researchers were responsible for developing effective enzyme replacement therapies for Gaucher and Fabry diseases.  NINDS-funded scientists continue to study how lipids accumulate in cells and why they cause harm to the body, and on the development of new treatments targeting disease mechanisms, including gene therapies, cell-based therapies, and pharmacological approaches.  The NINDS, along with other Institutes and Centers of the National Institutes of Health, supports the Lysosomal Disease Network, a network of centers that address some of the major challenges in the diagnosis, management, and therapy of rare diseases, including the lipid storage diseases.

Information from the National Library of Medicine’s MedlinePlus
Metabolic Disorders

NINDS and other institutes of the National Institutes of Health (NIH) conduct research related to lipid storage diseases in laboratories at the NIH and also support additional research through grants to major medical institutions across the country.  NINDS researchers were responsible for developing effective enzyme replacement therapies for Gaucher and Fabry diseases.  NINDS-funded scientists continue to study how lipids accumulate in cells and why they cause harm to the body, and on the development of new treatments targeting disease mechanisms, including gene therapies, cell-based therapies, and pharmacological approaches.  The NINDS, along with other Institutes and Centers of the National Institutes of Health, supports the Lysosomal Disease Network, a network of centers that address some of the major challenges in the diagnosis, management, and therapy of rare diseases, including the lipid storage diseases.

Information from the National Library of Medicine’s MedlinePlus
Metabolic Disorders

Search Disorders

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

Lipid storage diseases are a group of inherited metabolic disorders in which harmful amounts of fatty materials (lipids) accumulate in various tissues and cells in the body.  Lipids are important parts of the membranes found within and between each cell and in the myelin sheath that coats and protects the nerves.  Over time, this excessive storage of fats can cause permanent cellular and tissue damage, particularly in the brain, peripheral nervous system, liver, spleen, and bone marrow.  Lipid storage diseases are inherited from one or both parents who carry a defective gene.   Symptoms may appear early in life or develop in the teen or even adult years.  Neurological complications of the lipid storage diseases may include lack of muscle coordination, brain degeneration, seizures, loss of muscle tone, learning problems, spasticity, feeding and swallowing difficulties, slurred speech, hypersensitivity to touch, pain in the arms and legs, and clouding of the cornea. 

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Definition

Lipid storage diseases are a group of inherited metabolic disorders in which harmful amounts of fatty materials (lipids) accumulate in various tissues and cells in the body.  Lipids are important parts of the membranes found within and between each cell and in the myelin sheath that coats and protects the nerves.  Over time, this excessive storage of fats can cause permanent cellular and tissue damage, particularly in the brain, peripheral nervous system, liver, spleen, and bone marrow.  Lipid storage diseases are inherited from one or both parents who carry a defective gene.   Symptoms may appear early in life or develop in the teen or even adult years.  Neurological complications of the lipid storage diseases may include lack of muscle coordination, brain degeneration, seizures, loss of muscle tone, learning problems, spasticity, feeding and swallowing difficulties, slurred speech, hypersensitivity to touch, pain in the arms and legs, and clouding of the cornea. 

Treatment
Treatment

Currently there is no specific treatment available for most of the lipid storage dThe prognosis for a lipid storage disorder is determined by the type of disease, the age of onset, and the severity of symptoms.  Children treated for some forms of Gaucher disease may live well into adulthood, while children with Niemann-Pick disease often die at a young age from infection or progressive neurological loss.  Children with Fabry disease often die prematurely of complications from heart disease, renal failure, or stroke.  Most children with Farber’s disease die by age 2, usually from lung disease.  Children with Tay-Sachs and Sandhoff diseases often die at an early age from recurring or respiratory infection.

×
Treatment

Currently there is no specific treatment available for most of the lipid storage dThe prognosis for a lipid storage disorder is determined by the type of disease, the age of onset, and the severity of symptoms.  Children treated for some forms of Gaucher disease may live well into adulthood, while children with Niemann-Pick disease often die at a young age from infection or progressive neurological loss.  Children with Fabry disease often die prematurely of complications from heart disease, renal failure, or stroke.  Most children with Farber’s disease die by age 2, usually from lung disease.  Children with Tay-Sachs and Sandhoff diseases often die at an early age from recurring or respiratory infection.

Definition
Definition

Lipid storage diseases are a group of inherited metabolic disorders in which harmful amounts of fatty materials (lipids) accumulate in various tissues and cells in the body.  Lipids are important parts of the membranes found within and between each cell and in the myelin sheath that coats and protects the nerves.  Over time, this excessive storage of fats can cause permanent cellular and tissue damage, particularly in the brain, peripheral nervous system, liver, spleen, and bone marrow.  Lipid storage diseases are inherited from one or both parents who carry a defective gene.   Symptoms may appear early in life or develop in the teen or even adult years.  Neurological complications of the lipid storage diseases may include lack of muscle coordination, brain degeneration, seizures, loss of muscle tone, learning problems, spasticity, feeding and swallowing difficulties, slurred speech, hypersensitivity to touch, pain in the arms and legs, and clouding of the cornea. 

Treatment
Treatment

Currently there is no specific treatment available for most of the lipid storage dThe prognosis for a lipid storage disorder is determined by the type of disease, the age of onset, and the severity of symptoms.  Children treated for some forms of Gaucher disease may live well into adulthood, while children with Niemann-Pick disease often die at a young age from infection or progressive neurological loss.  Children with Fabry disease often die prematurely of complications from heart disease, renal failure, or stroke.  Most children with Farber’s disease die by age 2, usually from lung disease.  Children with Tay-Sachs and Sandhoff diseases often die at an early age from recurring or respiratory infection.

Prognosis
Prognosis

The prognosis for a lipid storage disorder is determined by the type of disease, the age of onset, and the severity of symptoms.  Children treated for some forms of Gaucher disease may live well into adulthood, while children with Niemann-Pick disease often die at a young age from infection or progressive neurological loss.  Children with Fabry disease often die prematurely of complications from heart disease, renal failure, or stroke.  Most children with Farber’s disease die by age 2, usually from lung disease.  Children with Tay-Sachs and Sandhoff diseases often die at an early age from recurring or respiratory infection.

×

The prognosis for a lipid storage disorder is determined by the type of disease, the age of onset, and the severity of symptoms.  Children treated for some forms of Gaucher disease may live well into adulthood, while children with Niemann-Pick disease often die at a young age from infection or progressive neurological loss.  Children with Fabry disease often die prematurely of complications from heart disease, renal failure, or stroke.  Most children with Farber’s disease die by age 2, usually from lung disease.  Children with Tay-Sachs and Sandhoff diseases often die at an early age from recurring or respiratory infection.

Prognosis
Prognosis

The prognosis for a lipid storage disorder is determined by the type of disease, the age of onset, and the severity of symptoms.  Children treated for some forms of Gaucher disease may live well into adulthood, while children with Niemann-Pick disease often die at a young age from infection or progressive neurological loss.  Children with Fabry disease often die prematurely of complications from heart disease, renal failure, or stroke.  Most children with Farber’s disease die by age 2, usually from lung disease.  Children with Tay-Sachs and Sandhoff diseases often die at an early age from recurring or respiratory infection.

Definition

Lipid storage diseases are a group of inherited metabolic disorders in which harmful amounts of fatty materials (lipids) accumulate in various tissues and cells in the body.  Lipids are important parts of the membranes found within and between each cell and in the myelin sheath that coats and protects the nerves.  Over time, this excessive storage of fats can cause permanent cellular and tissue damage, particularly in the brain, peripheral nervous system, liver, spleen, and bone marrow.  Lipid storage diseases are inherited from one or both parents who carry a defective gene.   Symptoms may appear early in life or develop in the teen or even adult years.  Neurological complications of the lipid storage diseases may include lack of muscle coordination, brain degeneration, seizures, loss of muscle tone, learning problems, spasticity, feeding and swallowing difficulties, slurred speech, hypersensitivity to touch, pain in the arms and legs, and clouding of the cornea. 

Treatment

Currently there is no specific treatment available for most of the lipid storage dThe prognosis for a lipid storage disorder is determined by the type of disease, the age of onset, and the severity of symptoms.  Children treated for some forms of Gaucher disease may live well into adulthood, while children with Niemann-Pick disease often die at a young age from infection or progressive neurological loss.  Children with Fabry disease often die prematurely of complications from heart disease, renal failure, or stroke.  Most children with Farber’s disease die by age 2, usually from lung disease.  Children with Tay-Sachs and Sandhoff diseases often die at an early age from recurring or respiratory infection.

Prognosis

The prognosis for a lipid storage disorder is determined by the type of disease, the age of onset, and the severity of symptoms.  Children treated for some forms of Gaucher disease may live well into adulthood, while children with Niemann-Pick disease often die at a young age from infection or progressive neurological loss.  Children with Fabry disease often die prematurely of complications from heart disease, renal failure, or stroke.  Most children with Farber’s disease die by age 2, usually from lung disease.  Children with Tay-Sachs and Sandhoff diseases often die at an early age from recurring or respiratory infection.

What research is being done?

NINDS and other institutes of the National Institutes of Health (NIH) conduct research related to lipid storage diseases in laboratories at the NIH and also support additional research through grants to major medical institutions across the country.  NINDS researchers were responsible for developing effective enzyme replacement therapies for Gaucher and Fabry diseases.  NINDS-funded scientists continue to study how lipids accumulate in cells and why they cause harm to the body, and on the development of new treatments targeting disease mechanisms, including gene therapies, cell-based therapies, and pharmacological approaches.  The NINDS, along with other Institutes and Centers of the National Institutes of Health, supports the Lysosomal Disease Network, a network of centers that address some of the major challenges in the diagnosis, management, and therapy of rare diseases, including the lipid storage diseases.

Information from the National Library of Medicine’s MedlinePlus
Metabolic Disorders

Patient Organizations
Ara Parseghian Medical Research Foundation [For Niemann-Pick Type C Disease]
3530 East Campo Abierto
Suite 105
Tucson
AZ
Tucson, AZ 85718-3327
Tel: 520-577-5106
Children's Gaucher Research Fund
P.O. Box 2123
Granite Bay
CA
Granite Bay, CA 95746-2123
Tel: 916-797-3700
Fabry Support & Information Group
108 NE 2nd Street, Ste. C
P.O. Box 510
Concordia
MO
Concordia, MO 64020-0510
Tel: 660-463-1355
Hide and Seek Foundation for Lysosomal Storage Disease Research
6475 East Pacific Coast Highway
Suite 466
Long Beach
CA
Long Beach, CA 90803
Tel: 877-621-1122
ISMRD-International Advocate For Glycoprotein Storage Diseases
20880 Canyon View Drive
Saratoga
CA
Saratoga, CA 95070
Tel: 734-449-1190
March of Dimes
1275 Mamaroneck Avenue
White Plains
NY
White Plains, NY 10605
Tel: 914-997-4488; 888-MODIMES (663-4637)
National Fabry Disease Foundation
4301 Connecticut Avenue, NW
Suite 404
Washington
DC
Washington, DC 20008-2369
Tel: 800-651-9131
National Gaucher Foundation, Inc.
5410 Edson Lane, Suite 220
Rockville
MD
Rockville, MD 20852
Tel: 800-504-3189
National Niemann-Pick Disease Foundation, Inc.
P.O. Box 49
401 Madison Avenue, Suite B
Ft. Atkinson
WI
Ft. Atkinson, WI 53538
Tel: 920-563-0930; 877-CURE-NPC (287-3672)
National Tay-Sachs and Allied Diseases Association
2001 Beacon Street
Suite 204
Boston
MA
Boston, MA 02135
Tel: 800-90-NTSAD (906-8723)
United Leukodystrophy Foundation
224 North 2nd Street, Suite 2
DeKalb
IL
DeKalb, IL 60115
Tel: 815-748-3211; 800-728-5483
Publications

Niemann-Pick disease information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS).

Metachromatic Leukodystrophy information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS).

Patient Organizations