Citrullinemia Save

Citrullinemia: Understanding the Causes and Symptoms

Citrullinemia is a rare genetic disorder that affects the body's ability to break down the amino acid citrulline. This condition is caused by a deficiency of the enzyme argininosuccinate synthetase (ASS), which is responsible for the conversion of citrulline into another amino acid called arginine.

The inability to metabolize citrulline leads to a buildup of ammonia in the blood, resulting in a condition known as hyperammonemia. This can have detrimental effects on the central nervous system and can cause severe neurological symptoms if left untreated.

Causes:

Citrullinemia is an inherited disorder that is passed down through families in an autosomal recessive manner. This means that both parents must carry a copy of the defective gene for their child to be affected. The defective gene responsible for citrullinemia is called ASS1, and its mutations lead to the absence or dysfunction of the ASS enzyme.

Symptoms:

1. Neurological Symptoms: Infants with citrullinemia often experience poor feeding, vomiting, and lethargy. As the condition progresses, they may develop seizures, irritability, and developmental delays.
2. Metabolic Symptoms: Hyperammonemia can cause symptoms such as a strong ammonia-like odor in the urine, increased respiratory rate, and an enlarged liver.
3. Gastrointestinal Symptoms: Some individuals with citrullinemia may experience diarrhea, abdominal pain, and poor weight gain.

Diagnosis:

Diagnosing citrullinemia typically involves a combination of clinical examination, blood tests, and genetic testing. Elevated levels of ammonia and citrulline in the blood and urine, along with genetic testing confirming mutations in the ASS1 gene, can help establish a definitive diagnosis.

Conclusion:

Citrullinemia is a rare genetic disorder characterized by the body's inability to break down citrulline, leading to hyperammonemia and subsequent neurological symptoms. It is important to seek early diagnosis and management to prevent long-term complications. If you suspect your child or a family member may have citrullinemia, consult a healthcare professional for further evaluation and guidance.