UNDERSTANDING SLOS
Smith-Lemli-Opitz Syndrome (SLOS) is a rare genetic condition.
SLOS affects the production of cholesterol
SLOS is caused by a change, or mutation, in the 7-dehydrocholesterol reductase (DHCR7) gene. This gene is important because it helps the body make cholesterol. In people with SLOS, the mutation in DHCR7 means their body cannot make enough cholesterol. Cholesterol is an essential nutrient for proper growth and development.
What happens if the body cannot make enough cholesterol?
Poor growth and development
Without enough cholesterol, the body may have trouble growing and developing at a normal rate.
Low bile acid production
When cholesterol is low, it is difficult to produce enough bile acids. This makes it harder to digest food and properly absorb nutrients.
Elevated liver tests
Some people with SLOS may have higher liver enzymes, such as alanine aminotransferase (ALT) and aspartate aminotransferase (AST).
Lack of necessary building blocks for cells
Cholesterol plays an important role in making the cells in the body. Without enough cholesterol, cells might not be able to grow, function, or repair properly.
Impacted hormone production
Without enough cholesterol, certain hormones, like those that help with stress, growth, and reproduction, might not be able to be produced properly.
Impaired brain health
The brain relies on cholesterol to function properly. Not having enough can affect memory, thinking, and mood, making it harder for the brain to work its best.
Why does treatment for SLOS matter?
While there is currently no cure for SLOS, treatment may help address key issues such as low cholesterol levels; low absorption of fats, fat-soluble vitamins, and nutrients; elevated liver enzymes; impaired digestion; and disrupted growth.
Talk to a health care provider to learn more about SLOS.
