Acid lipase disease

An Overview

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: Wolman’s disease (also known as acid lipase deficiency) is an autosomal recessive disorder 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 including an excessive amount of fats in the stools, jaundice, anemia, vomiting, and calcium deposits in the adrenal glands, which causes them to harden.
• 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.
• The primary NIH organization for research on Degenerative Nerve Diseases is the National Institute of Neurological Disorders and Stroke. MedlinePlus links to health information from the National Institutes of Health and other federal government agencies.

Symptoms of Wolman’s Disease:

The symptoms in this form of Acid Lipase Disease or Lysosomal Acid Lipase Deficiency are visible within a few days or weeks of birth. Affected infants may have the following symptoms:
• Bloating or swelling of the stomach.
• Significant enlargement of liver and spleen.
• Fibrosis of liver.
• Accumulation of fluid in the abdominal cavity.
• Persistent vomiting.
• Frequent diarrhea and fatty stools.
• Hardening of adrenal gland.
• Lack of coordination of muscle.

Causes of Acid Lipase

Acid Lipase Disease or Lysosomal Acid Lipase Deficiency is caused due to mutations in the LIPA gene. This gene contains specific instructions for producing lysosomal acid lipase enzyme. Due to mutations, the gene loses that genetic instruction and the digestive system does not get the enzyme to digest fat present in a food. Thus, the disease occurs.

Lysosomal acid lipase enzyme deficiency is caused by a mutation in the LIPA gene which provides instructions for the produce this enzyme. When there are malfunctions in this gene the development of Wolman disease and Cholesteryl ester storage disease take place.

Diagnosis

Diagnosis of Acid Lipase Disease or Lysosomal Acid Lipase Deficiency largely depends on the identification of characteristic symptoms. In newborn babies, Wolman’s disease is detected by observing and testing enlarged liver and different gastrointestinal problems. In adult people, CESD is initially suspected in the similar process. Later, the physician confirms the disease through clinical investigation, patient’s history, patient’s family history, and some specialized tests that detect the levels of lysosomal lipase acid in the body.
Wolman Disease and Cholesteryl ester storage disease are both diagnosed by observation of previous medical history and symptoms, physical exams, laboratory tests also genetic testing.[3] In laboratory test it is expected that the total serum concentration of cholesterol, low density lipoproteins and triglycerides will be high and the serum concentration of high density lipoproteins are low for a positive result of acid lipase disease. The genetic tests done are
• Single-gene testing
• A multigene panel
• (If needed) More comprehensive genomic testing
Genetic tests are performed on a sample of blood, hair, skin, amniotic fluid (the fluid that surrounds a fetus during pregnancy), or other tissue. For example, a procedure called abuccal smear uses a small brush or cotton swab to collect a sample of cells from the inside surface of the chee

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. Lifespan for individuals with CESD is expected to be longer than individuals with Wolman disease, and available treatments may prolong life into adulthood. However, approximately 50% of individuals with CESD die in the second decade of life due to complications of liver disease or heart disease. Infants with LAL-D typically present in the first weeks of life and die within 6–12 months due to multi-organ failure.

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