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Description

Classic citrullinemia is an inherited disorder caused by a deficiency of the enzyme argininosuccinate synthetase (ASS). This enzyme is responsible for the conversion of citrulline to arginine, an essential amino acid. Without this enzyme, citrulline accumulates in the body, leading to a variety of symptoms, including vomiting, poor feeding, lethargy, and seizures. In severe cases, it can lead to coma and death. Treatment involves a low-protein diet and supplementation with arginine.

Synonyms

• argininosuccinate synthase deficiency
• arginosuccinate synthetase deficiency
• ASA deficiency
• ASS deficiency
• citrullinuria
• classic citrullinemia
• CTLN1
• Type I citrullinemia

Basic Lab Tests (measurements)

• whole blood
  •      ammonia

Detailed Disease and Condition Information (use the search buttons below to find details on these topics)
All of the following must be considered when interpreting clinical findings and are too extensive to be covered on this site: