Citrullinemia: Citrullinemia is an inherited urea cycle disorder which causes toxic substances including ammonia to build up in the blood. There are two main subtypes of Citrullinemia (I and II) which are caused by different genetic abnormalities and result in different symptoms. Milder forms may present in childhood and rare late-onset forms (adult-onset) may not cause symptoms until adulthood.
More detailed information about the symptoms,
causes, and treatments of Citrullinemia is available below.
Symptoms of Citrullinemia
See full list of 21
symptoms of Citrullinemia
Treatments for Citrullinemia
- Treatment generally involves sticking to a low protein diet
- High ammonia levels in the blood can be managed by using intravenous sodium benzoate, sodium phenylacetate and arginine
- Severe cases may require hemodialysis to remove toxins from the blood
- Oral sodium phenylbutyrate and arginine can be used as a long-term therapy
- Regular blood tests are needed to monitor ammonia and amino acid levels
- more treatments...»
Read more about treatments for Citrullinemia
Wrongly Diagnosed with Citrullinemia?
Read more about Deaths and Citrullinemia.
Review possible medical complications related to Citrullinemia:
- Brain damage if untreated (see Brain damage) - type I and II
- Brain swelling if untreated - type I and II
- Breathing problems if untreated - type I and II
- Changes in muscle tone if untreated - type I and II
- Muscle weakness if untreated - type I and II
- Poor growth if untreated - type I and II
- more complications...»
Causes of Citrullinemia
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causes of Citrullinemia
More information about causes of Citrullinemia:
Prognosis for Citrullinemia
Prognosis for Citrullinemia:
Timely diagnosis and treatment usually results in a good prognosis with normal growth and learning abilities - treatment is lifelong. In some severe cases, high ammonia levels can cause complications even with treatment.
More about prognosis of Citrullinemia
Statistics for Citrullinemia
Citrullinemia: Broader Related Topics
Types of Citrullinemia
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Definitions of Citrullinemia:
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Citrullinemia as a "rare disease".
Source - Orphanet
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