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The digestion, storage, and use of fats from foods is a complex process that involves hundreds of chemical reactions in the body. In most people, the body is already programmed by its genetic code to produce all of the enzymes and chemicals necessary to carry out these functions. These genetic instructions are passed from parents to their offspring during reproduction.

People with lipidoses are born without the genetic codes needed to tell their bodies how to complete a particular part of the fat digestion process. In most of these disorders, the body does not produce a certain enzyme or chemical. Over 30 different disorders of fat metabolism are related to genetic defects. Although the defects are passed from parents to children, the parents often do not have the disorders themselves.

The symptoms, available treatments, and long-term consequences of these conditions vary greatly. Some of the conditions become apparent shortly after the infant is born; in others, symptoms may not develop until adulthood. For most of the lipidoses, diagnosis is suspected based on the symptoms and family history. Blood tests, urine tests, and tissue tests can be used to confirm the diagnosis. Genetic testing can be used, in some cases, to identify the defective gene. Some of these disorders can be controlled with changes in the diet, medications, or enzyme supplements. For many, no treatment is available. Some may cause death in childhood or contribute to a shortened life expectancy.

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