Citrullinemia
Urea cycle disorder that involves the accumulation of ammonia in the blood.
Nº Q859142 ★★★★
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Citrullinemia
Urea cycle disorder that involves the accumulation of ammonia in the blood.
Citrullinemia 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, symptoms, and management, and are caused by mutations in different genes.
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Citrullinemia 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, symptoms, and management, 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 taking place in the liver. These reactions convert toxic ammonia, generated during the breakdown of amino acids, into urea, which is excreted by the kidneys.
Texto: Wikipédia em inglês, CC BY-SA 4.0. · Imagem: Unknown authorUnknown author (CC BY-SA 3.0) ·
