Citrullinemia (CIT, Citrullinuria, Argininosuccinate Synthase)


What Is The Citrullinemia?

Citrulline is an amino acid named after it was first extracted from watermelons. As the name implies, citrullinemia is a marked increase in the concentration of citrulline in the blood. The incidence of citrullinemia is extremely low, with an average incidence of approximately 1 in 70,000.


What The Cause Of Citrullinemia?

It is an autosomal recessive genetic disease, mainly due to urea synthesis disorder, causing accumulation of citrulline and other toxic substances in the blood. It can be divided into two types, of which, mutation in the ASS gene results in type I citrullinemia, and mutation in the SLC25A13 gene results in type II citrullinemia.


What Is The Symptoms Of Citrullinemia?

What are the common populations of citrullinemia?

Neonates are common (most of them are under two months old). Adult onset of type II citrullinemia is rare. The age group with high incidence is 20–50 years old.

What symptom does citrullinemia have?

Clinical manifestations of different types of citrullinemia are different.

  • Type I is characterized by lethargy, poor feeding, vomiting, seizures, and loss of consciousness.
  • Type II adult onset mainly involves the nervous system, manifested as repeated episodes of mental and behavioral abnormalities, seizures, with different degrees of disturbance of consciousness or even coma, and rapid onset. Neonatal hepatitis syndrome such as hepatomegaly and jaundice can occur with abnormal bleeding, anemia, and developmental delay.

How To Check The Citrullinemia?

Blood ammonia value and other related amino acid values were tested for liver function. Type I diagnosis can be detected by detecting argininosuccinate synthase activity in liver cells or fibroblasts, or by genetic testing. Type II may be confirmed by genetic examination.


How To Prevent The Citrullinemia?

Avoid excessive intake of protein, avoid infection, monitor growth and development, blood ammonia and related amino acid values, and avoid drinking alcohol and alcoholic foods. Prenatal intervention through antenatal clinic is available before giving birth for those with family history.


How To Treat The Citrullinemia?

Paying attention to diet is the most basic treatment. Adhere to a high protein, high fat, low carbohydrate diet, pay attention to supplement essential amino acids such as arginine. Adult type II can be cured by liver transplantation.

What is the prognosis of citrullinemia?

It is closely related to the discovery of timely and long-term treatment process, and most patients have a good prognosis. The prognosis of adult patients is poor in general, but if liver transplantation is performed, the prognosis can be obviously improved.

What department should citrullinemia patients visit?

Pediatrics, hematology, neurology, gastroenterology

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