7-dehydrocholesterol is a molecule that becomes cholesterol through enzyme activity.
A treatment that is not intended to be used alone. Instead, it is intended to be used in combination with a primary treatment.
Alanine transaminase test (ALT)
The alanine transaminase/aminotransferase test, also known as ALT, is one of a group of tests known as liver function tests (or LFTs) and is used to monitor damage to the liver.
Aspartate transaminase test (AST)
The aspartate transaminase/aminotransferase test measures levels of AST, an enzyme released into the blood when certain organs or tissues, particularly the liver and heart, are injured.
An abnormal gene where one copy must be inherited from each parent for a trait to appear.
Bile is a fluid that contains water, certain minerals, and other materials including bile acids, lipids, cholesterol, and an orange-yellow pigment (bilirubin). Bile aids in digestion and absorption of dietary fats, vitamins, and other nutrients and it aids in the elimination of excess cholesterol, bilirubin, waste, and toxins from the body.
Bile acids are compounds that aid in digestion and absorption of dietary fats, vitamins, and other nutrients and in the elimination of excess cholesterol, bilirubin, waste, and toxins from the body.
A waxy substance that is present in animal cells and tissues, and is important in bodily processes.
One of the primary bile acids made in the liver under healthy conditions.
A compound in the body that enables certain chemical processes to occur.
Special proteins that help the body break down and use (metabolize) other substances. Liver enzymes can also provide information on the health of the liver.
Liver function tests (LFTs)
A group of blood tests that detect inflammation and damage to the liver. They can also check how well the liver is working.
Abnormal smallness of the circumference of the head.
The condition of having more than the normal number of fingers or toes.
Treatment that aims to replace, or make up a deficit of, a substance normally present in the body.
Smith-Lemli-Opitz Syndrome (SLOS)
SLOS results from an autosomal recessive mutation on a gene involved in cholesterol production and disrupts the body’s ability to make cholesterol.
Webbed or fused toes.
WHAT IS CHOLBAM® (cholic acid) capsules?
CHOLBAM is a prescription medicine. It is a bile acid used for
- Treatment of bile acid synthesis disorders (malfunction in the production of bile acid in the liver) due to a lack of a single enzyme responsible for bile acid production.
- Treatment (in addition to other treatments) of peroxisomal disorders (a loss of function in important parts of the cell), including Zellweger spectrum disorders, in patients who show signs or symptoms of liver disease, pale stools due to too much fat, or problems resulting from not absorbing certain vitamins (A, D, E, K).
The safety and effectiveness of CHOLBAM on symptoms outside of the liver have not been studied.
IMPORTANT SAFETY INFORMATION
CHOLBAM may not be right for you. Before taking CHOLBAM, tell your doctor about:
- All health conditions you may have and any medications you may be taking.
- If you are pregnant or plan to become pregnant.
- If you are breastfeeding or plan to breastfeed.
What are the possible side effects of CHOLBAM?
- Serious Side Effects: You will need to undergo laboratory testing periodically while on treatment to assess liver function. CHOLBAM may worsen liver function. Tell your doctor right away if you experience symptoms associated with worsening of liver function (e.g., skin or the whites of eyes turn yellow, urine turns dark or brown [tea colored], pain on the right side of stomach, bleeding or bruising occurs more easily than normal, or increased lethargy). Your doctor will decide if you need to discontinue treatment with CHOLBAM.
- Most Common Side Effects: Diarrhea, acid reflux that damages the lining of the esophagus, discomfort and fatigue, yellowing of skin or eyes, skin lesion, nausea, abdominal pain, formation of growths in the intestinal tract, urinary tract infection, nerve damage causing change in sensation in extremities.
These are not all the possible side effects of CHOLBAM. Tell your doctor if you have any side effect that bothers you or that does not go away.
You may report side effects to FDA at 1-800-FDA-1088 or www.fda.gov/medwatch. You may also report side effects to Mirum Pharmaceuticals at 1-855-MRM-4YOU.
Please see accompanying full Prescribing Information for additional Important Safety Information.