What is MDR3 Deficiency

MDR3 Deficiency is a rare genetic disorder that affects the liver's ability to secrete bile into the digestive system. Bile is a substance produced by the liver that helps in the digestion and absorption of fats. This condition is caused by mutations in the MDR3 gene, which is responsible for producing a protein called multidrug resistance protein 3.

Individuals with MDR3 Deficiency may experience a range of symptoms including jaundice (yellowing of the skin and eyes), itching, fatigue, and abdominal pain. They may also have difficulty digesting fats, leading to poor growth and weight gain in children.

Diagnosis of MDR3 Deficiency involves genetic testing to identify mutations in the MDR3 gene. Treatment options for this condition are limited and mainly focus on managing symptoms. This may include medications to improve bile flow, dietary modifications to reduce fat intake, and vitamin supplementation.

It is important for individuals with MDR3 Deficiency to work closely with healthcare professionals, including hepatologists and dietitians, to develop a personalized treatment plan and monitor liver function regularly.