| Acid lipase disease 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. |
Acid lipase disease 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 waxes, oils, and cholesterol. |
These fatty substances, called lipids, include waxes, oils, and cholesterol. |
| Two rare lipid storage diseases are caused by the deficiency of the enzyme lysosomal acid lipase: |
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). |
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, jaundice, anemia, vomiting, malnourishment, gastrointestinal problems, and calcium deposits in the adrenal glands, causing them to harden. |
Infants with the disorder appear normal at birth but quickly develop progressive mental deterioration, low muscle tone, jaundice, anemia, vomiting, malnourishment, gastrointestinal problems, and calcium deposits in the adrenal glands, causing them to harden. |
| Affected children also develop an enlarged liver and grossly enlarged spleen, and the abdomen is distended. |
Affected children also develop an enlarged liver and grossly enlarged spleen, and the abdomen is distended. |
| Both male and female infants are affected by the disorder. |
Both male and female infants are affected by the disorder. |
| 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. |
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. |
| CESD is a less severe variant of Wolman’s disease, with later onset. |
CESD is a less severe variant of Wolman’s disease, with later onset. |
| Children develop an enlarged liver, leading to cirrhosis and chronic liver failure before adulthood. |
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. |
Children may also develop calcium deposits in the adrenal glands and jaundice. |
| Onset varies, and the disorder may not be diagnosed until adulthood. |
Onset varies, and the disorder may not be diagnosed until adulthood. |
