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 …

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 …

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 …

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 …

Arginase deficiency is an inherited disorder that causes the amino acid arginine (a building block of proteins) and ammonia to accumulate gradually in the blood. Ammonia, which is formed …

精氨酸酶缺乏症（argininemia）又稱精氨酸血症，是一種罕見的常染色體隱性遺傳代謝病，患者血液、腦脊液中精氨酸明顯升高，主要表現是智力和運動障礙、痙攣性癱瘓，早期常被誤診為腦 …

Argininemia characterized by significant elevations of arginine is caused by a deficiency of ARG1. Argininemia presents differently from all of the other UCDs ( Wong, Cederbaum, and …

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 …

2018年8月15日 · 精氨酸血症（argininemia, OMIM 207800）是尿素循环中精氨酸酶-1（arginase-1, AI）缺陷所导致的以高精氨酸血症为主要临床表现的常染色体隐性遗传疾病。 该病是尿素循 …

2024年2月18日 · Argininemia is characterized by persistent pathological elevation of arginine levels in both plasma and cerebrospinal fluid (CSF). Clinically, individuals with ARG1-D …