What is Citrullinemia Type I?

Citrullinemia Type I is a rare genetic disorder that affects the body's ability to break down the amino acid called citrulline. This condition can lead to a buildup of ammonia in the blood, which can be toxic to the brain and other organs.

The primary impact of Citrullinemia Type I on health is the potential for serious neurological and cognitive problems due to the accumulation of ammonia. Proper management and treatment are essential to prevent complications and maintain overall well-being.

Symptoms of Citrullinemia Type I

Citrullinemia Type I is a rare genetic disorder that primarily affects the liver's ability to process ammonia. The symptoms of this condition typically manifest in the early days of life and can vary in severity. Patients may experience a range of symptoms related to ammonia buildup in the body.

These symptoms can impact various bodily functions and may require prompt medical attention for proper management.

Poor appetite
Vomiting
Lethargy
Seizures
Developmental delays

Get a second opinion from trusted experts and makeconfident, informed decisions.

Get Second Opinion

Causes of Citrullinemia Type I

Citrullinemia Type I is primarily caused by a genetic mutation that affects the body's ability to break down ammonia. This leads to a buildup of ammonia in the blood, causing symptoms associated with the condition. Other factors such as diet and lifestyle do not directly cause Citrullinemia Type I but can exacerbate the symptoms.

Genetic mutations
Deficiency of the enzyme argininosuccinate synthetase
Inability to break down the amino acid citrulline

Types of Citrullinemia Type I

Citrullinemia Type I is a rare genetic disorder that affects the body's ability to break down the amino acid citrulline. There are different forms or types of Citrullinemia Type I, each characterized by specific genetic mutations.

Classic Citrullinemia Type I: The most common form characterized by hyperammonemia, seizures, and liver dysfunction in infancy.
NeonatalOnset Citrullinemia Type I: Presents shortly after birth with severe symptoms like lethargy, poor feeding, and respiratory issues.
LateOnset Citrullinemia Type I: Symptoms manifest in childhood or adulthood, often with milder hyperammonemia episodes and neurological complications.
Benign AdultOnset Citrullinemia Type I: Typically asymptomatic or with mild symptoms, often diagnosed incidentally during adulthood.
Atypical Citrullinemia Type I: Rare variant with unique clinical features or unusual presentation, requiring specialized diagnostic and management approaches.

Risk Factors

Citrullinemia Type I is a rare genetic disorder that can be triggered by certain risk factors. These factors can increase the likelihood of developing the condition and may include both genetic and environmental influences.

Family history of citrullinemia
Certain genetic mutations
Certain medications or triggers
Liver disease
Premature birth

Your health is everything - prioritize your well-being today.

Schedule Your Appointment

Diagnosis of Citrullinemia Type I

Citrullinemia Type I is typically diagnosed through a series of tests and evaluations. Healthcare providers will consider the patient's symptoms, medical history, and family history. Blood tests are commonly used to measure ammonia levels and detect specific markers indicative of the condition.

Additionally, genetic testing may be conducted to confirm the diagnosis by identifying mutations in the ASS1 gene. Imaging studies like MRI or CT scans can help assess the extent of any liver damage associated with the disorder.

Genetic testing
Blood tests
Urine tests
Liver biopsy

Treatment for Citrullinemia Type I

Citrullinemia Type I is a rare genetic disorder that affects the body's ability to break down the amino acid citrulline. Treatment options for Citrullinemia Type I typically focus on managing symptoms and preventing complications. These may include dietary restrictions, medications, and close monitoring by healthcare providers.

In some cases, liver transplant may be considered as a treatment option for severe cases of Citrullinemia Type I. It is important for individuals with this condition to work closely with a healthcare team to develop a personalized treatment plan that meets their specific needs.

Lowprotein Diet: Restricting protein intake can help reduce the buildup of ammonia in the body, which is a key factor in managing Citrullinemia Type I.
AmmoniaScavenging Medications: Medications like sodium phenylbutyrate can help remove excess ammonia from the body, aiding in the management of Citrullinemia Type I.
Arginine Supplementation: Providing additional arginine can help support the urea cycle, which is often impaired in individuals with Citrullinemia Type I.
Liver Transplant: In severe cases or when other treatments are ineffective, a liver transplant may be considered to replace the enzymedeficient liver with a healthy one.
Regular Monitoring: Routine blood tests and monitoring of ammonia levels are essential to track the progression of the disease and adjust treatment as needed for individuals with Citrullinemia Type I.