Arginine - structure, supplement, benefits, side effects, dosage
2017年7月24日 · Argininemia is a rare inherited disorder caused by a deficiency of the enzyme arginase, which is essential for breaking down the amino acid arginine. This condition leads to high levels of arginine in the blood.
精氨酸酶缺乏症 - 百度百科
精氨酸酶缺乏症（argininemia）又称精氨酸血症，是一种罕见的常染色体隐性遗传代谢病，患者血液、脑脊液中精氨酸明显升高，主要表现是智力和运动障碍、痉挛性瘫痪，早期常被误诊为脑性瘫痪及神经变性病，生存质量极差，预后不良。
Argininemia - Wikipedia
Argininemia is an autosomal recessive urea cycle disorder where a deficiency of the enzyme arginase causes a buildup of arginine and ammonia in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if levels become too high; the nervous system is especially sensitive to the effects of excess ammonia.
精氨酸酶缺乏症：症状体征、病因、流行病学、诊断和治疗
精氨酸酶缺乏症（argininemia，Arginase deficiency）又称精氨酸血症（Hyperargininemia），是一种罕见的常染色体隐性遗传代谢病，患者血液、脑脊液中精氨酸明显升高，主要表现是智力和运动障碍、痉挛性瘫痪，早期常被误诊为脑性瘫痪及神经变性病，生存质量极差 ...
Arginase Deficiency - StatPearls - NCBI Bookshelf
2023年8月8日 · Arginase deficiency (argininemia) is an autosomal recessive metabolic disorder characterized by hyperammonemia secondary to arginine accumulation. The disorder is rare and is best managed by an interprofessional team that includes a pediatrician, geneticist, endocrinologist, and dietitian.
Argininemia | About the Disease | GARD - Genetic and Rare …
Argininemia is an inherited metabolic disease in which the body is unable to process arginine (a building block of protein). It belongs to a group of disorders known as urea cycle disorders. These occur when the body's process for removing ammonia is disrupted, which can cause ammonia levels in the blood to rise (hyperammonemia).
Orphanet: Argininemia
A rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment. The documents contained in this website are presented for information purposes only.
What is Argininemia? Argininemia (ARG) is a condition that causes harmful amounts of arginine and ammonia to build up in the body. It is considered an amino acid condition because people affected with ARG are unable to break down an amino acid, a small molecule that makes up proteins, known as arginine. You may also hear ARG called a urea
Arginase Deficiency - GeneReviews® - NCBI Bookshelf
2004年10月21日 · Arginase deficiency in untreated individuals is characterized by episodic hyperammonemia of variable degree that is infrequently severe enough to be life threatening or to cause death. Most commonly, birth and early childhood are normal.
Arginase Deficiency - PubMed
2023年8月8日 · Arginase deficiency (argininemia) is an autosomal recessive metabolic disorder characterized by hyperammonemia secondary to arginine accumulation. Ammonia levels can vary according to the patient’s current age and status, presenting initially with slow growth, followed by developmental delay and cog …
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