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Argininosuccinate lyase is an intermediate enzyme in the urea synthesis pathway and its function is imperative to the continuation of the cycle. A non-functioning enzyme results in patients' accumulation of ammonia, argininosuccinate, and citrulline in the blood, and argininosuccinate is excreted in the urine. [ 9 ]
Citrullinemia type I (CTLN1), also known as arginosuccinate synthetase deficiency, is a rare disease caused by a deficiency in argininosuccinate synthetase, an enzyme involved in excreting excess nitrogen from the body. [1] There are mild and severe forms of the disease, which is one of the urea cycle disorders.
In argininosuccinic aciduria, the enzyme argininosuccinate lyase, involved in the conversion of arginino succinate to arginine within the urea cycle, is damaged or missing. The urea cycle cannot proceed normally, and nitrogen accumulates in the bloodstream in the form of ammonia.
Argininosuccinic aciduria (Deficiency of argininosuccinic acid lyase) Argininemia (Deficiency of arginase) Hyperornithinemia, hyperammonemia, homocitrullinuria (HHH) syndrome (Deficiency of the mitochondrial ornithine transporter) [8] [17] All urea cycle defects, except OTC deficiency, are inherited in an autosomal recessive manner.
Argininosuccinate synthetase is an enzyme that in humans is encoded by the ASS1 gene. [ 5 ] [ 6 ] [ 7 ] The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway .
Radwah Oda was diagnosed with colon cancer at 30. She shares five symptoms she dismissed, including narrow stools, blood in the stool, pain and fatigue.
Argininosuccinate synthase or synthetase (ASS; EC 6.3.4.5) is an enzyme that catalyzes the synthesis of argininosuccinate from citrulline and aspartate. In humans, argininosuccinate synthase is encoded by the ASS gene located on chromosome 9. ASS is responsible for the third step of the urea cycle and one of the reactions of the citrulline-NO ...
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