ARGININOSUCCINIC ACIDURIA - CLINICAL AND BIOCHEMICAL FINDINGS IN 3 CHILDREN WITH THE LATE ONSET FORM, WITH SPECIAL EMPHASIS ON CEREBROSPINAL-FLUID FINDINGS OF AMINO-ACIDS AND PYRIMIDINES
ARGININOSUCCINIC ACIDURIA - CLINICAL AND BIOCHEMICAL FINDINGS IN 3 CHILDREN WITH THE LATE ONSET FORM, WITH SPECIAL EMPHASIS ON CEREBROSPINAL-FLUID FINDINGS OF AMINO-ACIDS AND PYRIMIDINES
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DOI：
10.1055/s-2008-1071506
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发表时间：
1993-02-01
期刊：
影响因子：
1.4
通讯作者：
TRIJBELS, JMF
中科院分区：
文献类型：
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作者：
GERRITS, GPJM;GABREELS, FJM;TRIJBELS, JMF
本文报道三例迟发型精氨酸琥珀酸尿症患儿。前两个是姐妹。临床表现为轻度发育迟缓和共济失调，并伴有高氨血症发作。所有患者体液中精氨酸琥珀酸及其酸酐浓度均升高，脑脊液（CSF）中最明显。此外，在病例1和2中，我们发现假尿嘧啶和尿嘧啶的浓度升高仅限于脑脊液，这在以前没有报道过。在案例3中，有一些精氨酸琥珀酸裂解酶（ASL）的残余活性，我们发现这些化合物的正常值。在尿中，我们发现病例1和2的尿嘧啶浓度升高，病例2的乳香酸浓度升高。3例患者血浆中均出现乳酸升高，例2尿嘧啶升高，例2和例3胞苷升高。结果正在讨论中，并表明脑脊液嘧啶值揭示了尿素循环障碍的脑组织新的生化异常。
Three children with the late onset form of argininosuccinic aciduria are presented. The first two are sisters. The clinical features are characterized by mild retardation and ataxia, complicated by episodes of hyperammonemia. All patients showed elevated concentrations of argininosuccinic acid and its anhydrides in all body fluids, most pronounced in cerebrospinal fluid (CSF). Moreover, in Cases 1 and 2, we found elevated concentrations of pseudouridine and uridine limited to CSF, which was not reported before. In Case 3, with some residual activity of argininosuccinate lyase (ASL), we found normal values of these compounds. In urine we found elevated concentrations of uracil in Cases 1 and 2, and orotic acid in Case 2. Plasma showed an elevated concentration of orotic acid in all three patients, uracil was elevated in Case 2, cytidine was elevated in Cases 2 and 3. The results are being discussed and indicate that CSF values of pyrimidines reveal new biochemical abnormalities of brain tissue in urea cycle disorders.