MDR3 Deficiency synonyms

MDR3 Deficiency Synonyms

MDR3 deficiency, also known as multidrug resistance protein 3 deficiency, is a rare genetic disorder that affects the liver. It is characterized by a malfunctioning of the MDR3 protein, which is responsible for transporting certain lipids from liver cells into bile. Without proper functioning of this protein, bile becomes thick and can lead to a range of symptoms and complications.

There are several synonyms used to refer to MDR3 deficiency:

• PFIC3: Progressive familial intrahepatic cholestasis type 3 is a term often used to describe MDR3 deficiency. It is one of the subtypes of progressive familial intrahepatic cholestasis, a group of genetic liver disorders.


• Byler disease: Byler disease is another name for MDR3 deficiency, named after the physician who first described the condition. It is a hereditary disorder that affects the liver's ability to secrete bile.


• Cholestasis: Cholestasis refers to the impairment or blockage of bile flow from the liver. MDR3 deficiency can cause cholestasis due to the abnormal composition of bile.


• Low-phospholipid-associated cholelithiasis (LPAC): LPAC is a condition characterized by the formation of gallstones due to low levels of phospholipids in bile. MDR3 deficiency is one of the underlying causes of LPAC.

It is important to note that while these terms are used interchangeably, they all refer to the same underlying condition of MDR3 deficiency. Proper diagnosis and management of the disorder are crucial for individuals affected by this condition.