Acid Lipase Disease Information Page

Acid Lipase Disease Information Page


What research is being done?

The National Institute of Neurological Disorders and Stroke conducts and supports research to understand lipid storage diseases such as acid lipase deficiency and to develop treatments targeting disease mechanisms. Research being conducted through the Lysosomal Diseases Network is collecting longitudinal data that can be used to improve the care and treatment of people with lysosomal acid lipsae deficiency. Additional research studies hope to identify biomarkers (signs that may indicate risk of a disease and improve diagnosis) for the lipid storage diseases that will speed the development of novel therapeutics for these disorders.

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What research is being done?

The National Institute of Neurological Disorders and Stroke conducts and supports research to understand lipid storage diseases such as acid lipase deficiency and to develop treatments targeting disease mechanisms. Research being conducted through the Lysosomal Diseases Network is collecting longitudinal data that can be used to improve the care and treatment of people with lysosomal acid lipsae deficiency. Additional research studies hope to identify biomarkers (signs that may indicate risk of a disease and improve diagnosis) for the lipid storage diseases that will speed the development of novel therapeutics for these disorders.

The National Institute of Neurological Disorders and Stroke conducts and supports research to understand lipid storage diseases such as acid lipase deficiency and to develop treatments targeting disease mechanisms. Research being conducted through the Lysosomal Diseases Network is collecting longitudinal data that can be used to improve the care and treatment of people with lysosomal acid lipsae deficiency. Additional research studies hope to identify biomarkers (signs that may indicate risk of a disease and improve diagnosis) for the lipid storage diseases that will speed the development of novel therapeutics for these disorders.


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

Acid lipase disease or deficiency occurs when the enzyme needed to break down certain fats that are normally digested by the body is lacking or missing, resulting in the toxic buildup of these fats in the body’s cells and tissues. These fatty substances, called lipids, include fatty acids, oils, and cholesterol. Two rare lipid storage diseases are caused by the deficiency of the enzyme lysosomal acid lipase, both of which are interited and affect males and females

  • Wolman’s disease (also known as acid lipase deficiency) is marked by the buildup of cholesteryl esters (normally a tranport form of cholesterol that brings nutrients into the cells and carries out waste) and triglycerides (a chemical form in which fats exist in the body). Infants with the disorder appear normal at birth but quickly develop progressive mental deterioration, low muscle tone, enlarged liver and grossly enlarged spleen, gastrointestinal problems, jaundice, anemia, vomiting, and calcium deposits in the adrenal glands, which causes them to harden.
  • Cholesteryl ester storage disease (CESD) is an extremely rare disorder that results from storage of cholesteryl esters and triglycerides in cells in the blood and lymph and lymphoid tissue. Children develop an enlarged liver, leading to cirrhosis and chronic liver failure before adulthood. Children may also develop calcium deposits in the adrenal glands and jaundice. Onset varies, and the disorder may not be diagnosed until adulthood.
×
Definition

Acid lipase disease or deficiency occurs when the enzyme needed to break down certain fats that are normally digested by the body is lacking or missing, resulting in the toxic buildup of these fats in the body’s cells and tissues. These fatty substances, called lipids, include fatty acids, oils, and cholesterol. Two rare lipid storage diseases are caused by the deficiency of the enzyme lysosomal acid lipase, both of which are interited and affect males and females

  • Wolman’s disease (also known as acid lipase deficiency) is marked by the buildup of cholesteryl esters (normally a tranport form of cholesterol that brings nutrients into the cells and carries out waste) and triglycerides (a chemical form in which fats exist in the body). Infants with the disorder appear normal at birth but quickly develop progressive mental deterioration, low muscle tone, enlarged liver and grossly enlarged spleen, gastrointestinal problems, jaundice, anemia, vomiting, and calcium deposits in the adrenal glands, which causes them to harden.
  • Cholesteryl ester storage disease (CESD) is an extremely rare disorder that results from storage of cholesteryl esters and triglycerides in cells in the blood and lymph and lymphoid tissue. Children develop an enlarged liver, leading to cirrhosis and chronic liver failure before adulthood. Children may also develop calcium deposits in the adrenal glands and jaundice. Onset varies, and the disorder may not be diagnosed until adulthood.
Treatment
Treatment

Enzyme replacement therapy for both Wolman's and cholesteryl ester storage disease is currently under investigation. Certain drugs may be given to help with adrenal gland production, and children may need to be fed intravenously. Individuals with CESD may benefit from a low cholesterol diet.

×
Treatment

Enzyme replacement therapy for both Wolman's and cholesteryl ester storage disease is currently under investigation. Certain drugs may be given to help with adrenal gland production, and children may need to be fed intravenously. Individuals with CESD may benefit from a low cholesterol diet.

Definition
Definition

Acid lipase disease or deficiency occurs when the enzyme needed to break down certain fats that are normally digested by the body is lacking or missing, resulting in the toxic buildup of these fats in the body’s cells and tissues. These fatty substances, called lipids, include fatty acids, oils, and cholesterol. Two rare lipid storage diseases are caused by the deficiency of the enzyme lysosomal acid lipase, both of which are interited and affect males and females

  • Wolman’s disease (also known as acid lipase deficiency) is marked by the buildup of cholesteryl esters (normally a tranport form of cholesterol that brings nutrients into the cells and carries out waste) and triglycerides (a chemical form in which fats exist in the body). Infants with the disorder appear normal at birth but quickly develop progressive mental deterioration, low muscle tone, enlarged liver and grossly enlarged spleen, gastrointestinal problems, jaundice, anemia, vomiting, and calcium deposits in the adrenal glands, which causes them to harden.
  • Cholesteryl ester storage disease (CESD) is an extremely rare disorder that results from storage of cholesteryl esters and triglycerides in cells in the blood and lymph and lymphoid tissue. Children develop an enlarged liver, leading to cirrhosis and chronic liver failure before adulthood. Children may also develop calcium deposits in the adrenal glands and jaundice. Onset varies, and the disorder may not be diagnosed until adulthood.
Treatment
Treatment

Enzyme replacement therapy for both Wolman's and cholesteryl ester storage disease is currently under investigation. Certain drugs may be given to help with adrenal gland production, and children may need to be fed intravenously. Individuals with CESD may benefit from a low cholesterol diet.

Prognosis
Prognosis

Wolman’s disease is usually fatal by age 1. The onset and course of cholesteryl ester storage disease varies, and individuals may live into adulthood.

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Wolman’s disease is usually fatal by age 1. The onset and course of cholesteryl ester storage disease varies, and individuals may live into adulthood.

Prognosis
Prognosis

Wolman’s disease is usually fatal by age 1. The onset and course of cholesteryl ester storage disease varies, and individuals may live into adulthood.

Definition

Acid lipase disease or deficiency occurs when the enzyme needed to break down certain fats that are normally digested by the body is lacking or missing, resulting in the toxic buildup of these fats in the body’s cells and tissues. These fatty substances, called lipids, include fatty acids, oils, and cholesterol. Two rare lipid storage diseases are caused by the deficiency of the enzyme lysosomal acid lipase, both of which are interited and affect males and females

  • Wolman’s disease (also known as acid lipase deficiency) is marked by the buildup of cholesteryl esters (normally a tranport form of cholesterol that brings nutrients into the cells and carries out waste) and triglycerides (a chemical form in which fats exist in the body). Infants with the disorder appear normal at birth but quickly develop progressive mental deterioration, low muscle tone, enlarged liver and grossly enlarged spleen, gastrointestinal problems, jaundice, anemia, vomiting, and calcium deposits in the adrenal glands, which causes them to harden.
  • Cholesteryl ester storage disease (CESD) is an extremely rare disorder that results from storage of cholesteryl esters and triglycerides in cells in the blood and lymph and lymphoid tissue. Children develop an enlarged liver, leading to cirrhosis and chronic liver failure before adulthood. Children may also develop calcium deposits in the adrenal glands and jaundice. Onset varies, and the disorder may not be diagnosed until adulthood.
Treatment

Enzyme replacement therapy for both Wolman's and cholesteryl ester storage disease is currently under investigation. Certain drugs may be given to help with adrenal gland production, and children may need to be fed intravenously. Individuals with CESD may benefit from a low cholesterol diet.

Prognosis

Wolman’s disease is usually fatal by age 1. The onset and course of cholesteryl ester storage disease varies, and individuals may live into adulthood.

What research is being done?

The National Institute of Neurological Disorders and Stroke conducts and supports research to understand lipid storage diseases such as acid lipase deficiency and to develop treatments targeting disease mechanisms. Research being conducted through the Lysosomal Diseases Network is collecting longitudinal data that can be used to improve the care and treatment of people with lysosomal acid lipsae deficiency. Additional research studies hope to identify biomarkers (signs that may indicate risk of a disease and improve diagnosis) for the lipid storage diseases that will speed the development of novel therapeutics for these disorders.

Patient Organizations

No organizations listed at this time

Patient Organizations