Citrullinemia
Citrullinemia
Citrullinemia (/sɪˌtruːlɪˈniːmiə/) is a urea cycle disorder that causes an accumulation of ammonia in the blood. The term is derived from the Latin citrullus, meaning "watermelon," and the Greek -emia, meaning "condition of the blood."
Types
There are two types of citrullinemia:
- Citrullinemia Type I (also known as Classic Citrullinemia or CTLN1) is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood.
- Citrullinemia Type II (also known as Adult-onset Citrullinemia or CTLN2) is a disorder that causes ammonia to accumulate in the blood due to a deficiency of the enzyme argininosuccinate synthetase.
Symptoms
Symptoms of citrullinemia can vary widely, from mild to severe, and may include lethargy, vomiting, seizures, and intellectual disability. In severe cases, if left untreated, citrullinemia can lead to coma and can be life-threatening.
Causes
Citrullinemia is caused by mutations in the ASS1 gene or the SLC25A13 gene. These genes provide instructions for making enzymes that are critical for the urea cycle, a sequence of reactions that occurs in liver cells. The urea cycle processes excess nitrogen, generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys.
Treatment
Treatment for citrullinemia typically involves a low-protein diet and medications to help remove ammonia from the body. In some cases, a liver transplant may be necessary.
See also
External links
- Medical encyclopedia article on Citrullinemia
- Wikipedia's article - Citrullinemia
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