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About Crigler Najjar Syndrome

What is Crigler Najjar Syndrome?

Crigler Najjar Syndrome is a rare inherited disorder that affects the body's ability to process bilirubin, a yellow pigment found in bile. It is caused by a deficiency of the enzyme glucuronyl transferase, which is responsible for breaking down bilirubin. Symptoms of Crigler Najjar Syndrome include jaundice, seizures, and mental retardation. Treatment typically involves phototherapy and, in some cases, a liver transplant.

What are the symptoms of Crigler Najjar Syndrome?

The main symptom of Crigler Najjar Syndrome is jaundice, which is a yellowing of the skin and eyes. Other symptoms may include:

- Dark urine

- Light-colored stools

- Fatigue

- Poor feeding

- Vomiting

- Seizures

- Developmental delays

- Abdominal swelling

- Liver enlargement

- High levels of bilirubin in the blood

What are the causes of Crigler Najjar Syndrome?

Crigler Najjar Syndrome is a rare genetic disorder caused by a mutation in the UGT1A1 gene. This gene is responsible for producing an enzyme called uridine diphosphate glucuronosyltransferase (UDPGT), which helps the body break down and eliminate bilirubin. When this gene is mutated, the body is unable to produce enough UDPGT, leading to a buildup of bilirubin in the blood. This can cause a variety of symptoms, including jaundice, seizures, intellectual disability, and liver failure.

What are the treatments for Crigler Najjar Syndrome?

The primary treatment for Crigler Najjar Syndrome is phototherapy, which involves exposing the patient to special fluorescent lights that help break down the bilirubin in the body. Other treatments include medications such as phenobarbital and rifampin, which help reduce the amount of bilirubin produced by the body. In some cases, a liver transplant may be necessary.

What are the risk factors for Crigler Najjar Syndrome?

The primary risk factor for Crigler Najjar Syndrome is a genetic mutation in the UGT1A1 gene. This gene mutation is inherited in an autosomal recessive pattern, meaning that both parents must carry the mutated gene in order for a child to be born with the condition. Other risk factors include family history of the condition, ethnicity, and exposure to certain environmental toxins.

Is there a cure/medications for Crigler Najjar Syndrome?

Yes, there is a cure for Crigler Najjar Syndrome. The most common treatment is a liver transplant, which can cure the condition. Other treatments include phototherapy, medications such as phenobarbital and phenytoin, and dietary changes.