Citrullinemia type I
Citrullinemia type I (pronounced as sit-roo-lin-ee-mee-uh type one) is a rare genetic disorder that affects the urea cycle, a series of reactions in liver cells. This disorder is characterized by elevated levels of a substance called citrulline in the blood.
Etymology
The term "Citrullinemia" is derived from the word "Citrulline", a non-essential amino acid that is an important intermediate in the urea cycle. The term "Type I" is used to distinguish this condition from other forms of Citrullinemia.
Symptoms
Symptoms of Citrullinemia type I can range from mild to severe. The most severe form becomes evident shortly after birth and can cause poor feeding, vomiting, seizures, and an increased level of ammonia in the blood (hyperammonemia). Less severe forms may not become evident until later in life.
Causes
Citrullinemia type I is caused by mutations in the ASS1 gene. This gene provides instructions for making an enzyme called argininosuccinate synthetase, which is necessary for the urea cycle.
Diagnosis
Diagnosis of Citrullinemia type I is based on the symptoms, clinical examination, and confirmed by genetic testing. The presence of high levels of citrulline in the blood is also indicative of this condition.
Treatment
Treatment for Citrullinemia type I involves dietary management to control the levels of ammonia in the blood, medications to remove excess ammonia, and in severe cases, liver transplantation.
Prognosis
The prognosis for individuals with Citrullinemia type I varies. With early diagnosis and appropriate treatment, many individuals can lead a normal life. However, without treatment, this condition can be life-threatening.
See also
External links
- Medical encyclopedia article on Citrullinemia type I
- Wikipedia's article - Citrullinemia type I
This WikiMD dictionary article is a stub. You can help make it a full article.
Languages: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski