Neonatal intrahepatic cholestasis due to citrin deficiency (NICCD) is a rare inherited disorder that affects the liver. It is caused by a deficiency of the enzyme citrin, which is responsible for breaking down certain fats in the liver. This leads to a buildup of bile acids in the liver, which can cause severe itching, jaundice, and liver damage. NICCD is usually diagnosed in the first few weeks of life and can be treated with dietary changes and medications.

The symptoms of Neonatal Intrahepatic Cholestasis due to Citrin Deficiency (NICCD) include jaundice, poor feeding, vomiting, diarrhea, failure to gain weight, and Enlarged liver and spleen. Other symptoms may include dark urine, light-colored stools, and itching. In some cases, NICCD can lead to liver failure and death.

Neonatal intrahepatic cholestasis due to citrin deficiency is caused by mutations in the SLC25A13 gene, which provides instructions for making a protein called citrin. This protein is involved in the transport of a molecule called citrate, which is essential for the breakdown of fats in the liver. Mutations in the SLC25A13 gene reduce or eliminate the production of citrin, leading to a buildup of fats in the liver and the development of the signs and symptoms of neonatal intrahepatic cholestasis due to citrin deficiency.

The primary treatment for neonatal intrahepatic cholestasis due to citrin deficiency is dietary supplementation with medium-chain triglycerides (MCTs). MCTs are a type of fat that is easily absorbed and metabolized by the body, and can help reduce the symptoms of cholestasis. Other treatments may include vitamin supplementation, antibiotics, and medications to reduce inflammation. In some cases, a liver transplant may be necessary.

1. Genetic predisposition: Neonatal intrahepatic cholestasis due to citrin deficiency is an inherited disorder caused by mutations in the SLC25A13 gene.

2. Family history: Having a family member with the disorder increases the risk of developing the condition.

3. Ethnicity: The disorder is more common in certain ethnic groups, such as Ashkenazi Jews.

4. Gender: The disorder is more common in males than females.

Yes, there is a cure for neonatal intrahepatic cholestasis due to citrin deficiency. Treatment typically involves a combination of medications, dietary changes, and lifestyle modifications. Medications used to treat this condition include ursodeoxycholic acid (UDCA), cholestyramine, and rifampin. Dietary changes may include avoiding foods high in fat and cholesterol, as well as increasing fiber intake. Lifestyle modifications may include avoiding alcohol and smoking.