Lipid Metabolism Disorders: When the Body Cannot Break Down Fats

Metabolism is how the body makes energy from food. Food is made of proteins, carbohydrates and fats; digestive enzymes break these down into sugars and acids — the body's fuel, used at once or stored in body tissues. In a metabolic disorder, something in this process goes wrong.

Lipid metabolism disorders

Lipids are fats and fat-like substances, including oils, fatty acids, waxes and cholesterol. In lipid metabolism disorders — among them Gaucher disease and Tay-Sachs disease — the body either lacks enough of the enzymes that break lipids down, or the enzymes do not work properly, so fats cannot be turned into energy.

Harmful amounts of lipids then build up. Over time they can damage cells and tissues, especially in the:

• brain;
• peripheral nervous system;
• liver;
• spleen;
• bone marrow.

Many of these disorders are very serious, and some are fatal.

Inheritance and testing

These disorders are inherited.

• Newborns are screened for some of them with blood tests.
• Parents with a family history can have genetic testing to see whether they carry the gene.
• Prenatal genetic tests can show whether a fetus has the disorder or carries the gene.

Treatment

Enzyme replacement therapy helps with a few of these disorders; for others there is no treatment. Medicines, blood transfusions and other procedures may help with complications.

Sources

• MedlinePlus, U.S. National Library of Medicine, "Lipid Metabolism Disorders." https://medlineplus.gov/lipidmetabolismdisorders.html
• Rewritten in hubnx's own words.