Lysosomal Acid Lipase Deficiency

What is lysosomal acid lipase deficiency?

Lysosomal acid lipase deficiency is a condition caused by the body not having enough of a specific enzyme called lysosomal acid lipase. This enzyme breaks down a specific type of fat in the body. Without the proper amount of enzyme, fats can build up to unsafe levels in the liver and other parts of the body. Symptoms of lysosomal acid lipase deficiency include liver damage, poor absorption of vitamins and nutrients, kidney issues, and developmental delay. Babies with lysosomal acid lipase deficiency can show signs and symptoms at birth, while some people with the condition have no symptoms until adulthood.

How common is lysosomal acid lipase deficiency?

Lysosomal acid lipase deficiency affects about 1 in every 30,000 babies born each year in the United States.

What can be done for lysosomal acid lipase deficiency?

People with lysosomal acid lipase deficiency can be given a form of treatment that replaces the missing enzyme in their body - this is called enzyme replacement therapy (ERT). People with lysosomal acid lipase deficiency can also make dietary changes, limiting their fat intake, which can treat some symptoms of the condition. While ERT and diet changes aren’t complete cures for lysosomal acid lipase deficiency, they can make some of the symptoms less severe.

How is lysosomal acid lipase deficiency inherited?

Lysosomal acid lipase deficiency is caused by changes in the LIPA gene. It is a recessive inherited condition, which means that a person must inherit two altered copies of the LIPA gene, one from each parent, in order to have the disease. People who have only one copy of the altered LIPA gene are called carriers, and are not expected to have symptoms of the condition. If a baby is identified as a carrier for lysosomal acid lipase deficiency through Eli screening, genetic counseling and additional testing in the parents is recommended.

References

https://ghr.nlm.nih.gov/condition/lysosomal-acid-lipase-deficiency
https://www.ncbi.nlm.nih.gov/books/NBK305870/

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