Citrullinemia, also called citrullinuria, is an autosomal recessive urea cycle disorder that causes ammonia and other toxic substances to accumulate in the blood. Two forms of citrullinemia have been described, both having different signs and symptoms, and are caused by mutations in different genes. Citrullinemia belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of chemical reactions that takes place in the liver.
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- Citrullinemia, also called citrullinuria, is an autosomal recessive urea cycle disorder that causes ammonia and other toxic substances to accumulate in the blood. Two forms of citrullinemia have been described, both having different signs and symptoms, and are caused by mutations in different genes. Citrullinemia belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of chemical reactions that takes place in the liver. These reactions process excess nitrogen, generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys.
- La Citrullinemia è un disordine recessivo autosomico che induce l'ammoniaca ed altre sostanze tossiche ad accumularsi nel sangue.
- 瓜氨酸血症（Citrullinemia）是一種遺傳的障礙，使得血液內積聚氨及其他有毒物質。瓜氨酸血症屬於一類遺傳病，稱為尿素循環代謝障礙。尿素循環是一連串的在肝臟內的化學反應，包括處理因身體使用蛋白質而產生過多的氮，製造尿素，並由腎臟排出體外。 瓜氨酸血症有兩種不同的種類，各自有著不同的徵狀，且由不同的基因突變所引起。兩個種類都是由染色體隱性遺傳的。由於基因的突變，使得在尿素循環中的一些酶出現缺乏，而令血液內的瓜氨酸水平上升，所以此症被稱為瓜氨酸血症。
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- Citrullinemia, also called citrullinuria, is an autosomal recessive urea cycle disorder that causes ammonia and other toxic substances to accumulate in the blood. Two forms of citrullinemia have been described, both having different signs and symptoms, and are caused by mutations in different genes. Citrullinemia belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of chemical reactions that takes place in the liver.
- La Citrullinemia è un disordine recessivo autosomico che induce l'ammoniaca ed altre sostanze tossiche ad accumularsi nel sangue.
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- Citrullinemia
- Citrullinemia
- 瓜氨酸血症
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