Adrenal glands

Located on top of your kidneys, these glands are organs that regulate blood chemistry and pressure. They are also vital in maintaining acid-base or pH balance in the body. 


A condition in which the number of red blood cells or the amount of hemoglobin in them is below normal.


Also known as hardening of the arteries, it occurs when fat, cholesterol, and lipids—the medical term for fats—build up on artery walls. This narrows the space inside the blood vessels and limits the flow of blood. Atherosclerosis can lead to heart attacks, strokes, and even death.


A mineral found mainly in the hard part of bones, where it is stored. Calcium is essential for healthy bones and is important for muscle contraction, heart action, and normal blood clotting. 


Anything of, relating to, or affecting the heart and blood vessels. 


A waxy, fat-like substance made in the liver and found in the blood and in all cells of the body. The body uses cholesterol to make vitamin D and various hormones. Abnormal amounts of certain cholesterol in the blood may build up in the walls of the veins and arteries, blocking flow to tissues and organs and increasing risk of developing heart disease and stroke. Two types of cholesterol include: low-density lipoprotein cholesterol (LDL-c), which is often called the bad cholesterol, and high-density lipoprotein cholesterol, which is known as the good cholesterol.

Cholesteryl ester

A type of fatty material in the body that is broken down by the LAL enzyme.

Cholesteryl ester storage disease (CESD)

Another name for LAL-D that occurs in children and adults. It is a rare genetic disorder where the body does not make enough of the LAL enzyme, or the LAL that the body produces does not work properly. LAL is needed to break down certain fats (lipids) in the body.


A condition in which a person has loose, watery stool that occurs more frequently than usual. 

Digestive tract

The group of organs that handles the process of breaking down food for use by the body. It includes the mouth, throat, esophagus, stomach, small intestine, colon or large intestine, rectum, and anus.

Early cardiovascular disease

Under most medical guidelines, cardiovascular diseases, such as heart disease, are considered early when seen in men under the age of 55 and women under the age of 65.


Enzymes are responsible for much of the work that is going on in cells. In small amounts, it increases the rate of a specific biochemical reaction.  Enzymes are often required for the normal metabolism, or breakdown, of substances in the body. 

Failure to thrive

The inability to grow and develop normally. A condition in which an infant or child’s weight gain and growth are far below the usual level for his or her age.

Familial combined hyperlipidemia (FCH)

An inherited disorder that causes high cholesterol and high levels of triglycerides in the blood.


A small organ just beneath the liver in which bile secreted by the liver is stored until needed by the body for digestion.


Inherited. Genetic diseases are determined by a combination of genes for a particular trait that are on the chromosomes received from a person’s father and mother.

Growth failure

A condition in which a child does not grow at the normal speed of other children of his or her age.

Heart attack

A serious condition in which the flow of oxygen-rich blood to a section of heart muscles suddenly becomes blocked, most often by a buildup of fat, cholesterol, and other substances in the walls of the arteries. The interrupted blood flow can damage or destroy part of the heart muscle.

Heterozygous familial hypercholesterolemia (HeFH)

An inherited disorder that causes high levels of low-density lipoprotein (LDL, "bad cholesterol") cholesterol levels in the blood.


Fat or fat-like substances.


The largest solid organ located on the upper-right side of the abdomen that has many important functions, including making and processing fats, such as cholesterol.

Liver failure

The serious inability of the liver to function normally due to damage.

Lysosomal acid lipase (LAL)

A enzyme that breaks down lipids so that they can be carried from the body’s tissues to the liver for removal. Mutations in the LIPA gene result in a decrease or loss of LAL enzyme activity. Without this enzyme, the lipids build up in the cells and tissues, causing the symptoms of LAL-D.

Lysosomal acid lipase deficiency (LAL-D)

A rare inherited condition involving a decrease or loss of LAL enzyme activity, which causes accumulation of lipids in tissues. The lipid accumulation can lead to complications in multiple organs.


Inability of the body to absorb nutrients from food.


Used to refer to any condition in which the body does not receive enough nutrients to properly function. This can occur when a person cannot properly digest or absorb nutrients from the food they consume; and may occur with certain medical conditions such as LAL-D.

Metabolic syndrome

A cluster of conditions, including increased blood pressure, high blood sugar, excess body fat around the waist, low HDL cholesterol level and triglyceride levels, that occur together, increasing your risk of heart disease, stroke and diabetes.

Nonalcoholic fatty liver disease (NAFLD)

One of the causes of fatty liver, occurring when fat is deposited in the liver due to causes other than excessive alcohol use.

Nonalcoholic steatohepatitis (NASH)

Liver inflammation and damage caused by a buildup of fat in the liver. It is part of a group of conditions called nonalcoholic fatty liver disease.


Colorless blood cells that help blood clot.


A disease or health condition that gets worse over time, resulting in a general decline in health or function.


A large, oval organ on the left side of the body between the stomach and the diaphragm that produces cells involved in immune responses.


A class of drugs that reduce the levels of fats—lipids such as cholesterol—in the blood.


The sudden death of brain cells due to lack of oxygen, caused by blockage of blood flow or the rupture of an artery to the brain.


A type of fatty material in the body that is broken down by the LAL enzyme.

Wolman disease

Another name for LAL-D that occurs in infants. It is an ultra-rare, rapidly progressive genetic disorder in which the body does not make the LAL enzyme, which is needed to break down certain fatty material in the body.