ORNITHINE CARBAMOYL TRANSFERASE DEFICIENCY - FINDINGS, MODELS AND PROBLEMS
ORNITHINE CARBAMOYL TRANSFERASE DEFICIENCY - FINDINGS, MODELS AND PROBLEMS
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DOI：
10.1007/bf01799616
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发表时间：
1992-01-01
影响因子：
4.2
通讯作者：
BACHMANN, C
中科院分区：
文献类型：
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作者：
BACHMANN, C
鸟氨酸氨基甲酰转移酶缺乏症的初始临床症状取决于发病年龄。出生后第一天的呼吸窘迫不能排除个体患者的OCT缺陷。酸碱状态不能作为尿素循环障碍和有机酸尿症的鉴别指标。超过新生儿年龄，第二个时期的风险增加往往致命的高氨血症危机之间发现12和15岁。对于杂合子的明确诊断（产前和产后），获得的组织数量应足以获得镶嵌结构的代表性样品。实验工作为解释高氨血症的可逆症状提供了一些线索。组织中谷氨酰胺浓度增加时色氨酸在血脑屏障的转运增加似乎取决于脑微血管中完整的γ-谷氨酰转肽酶，并至少部分涉及L-载体。应鼓励对高氨血症导致不可逆损害的机制进行动物研究，以便为临床决策确定可靠的预测标准。
The initial clinical symptoms of ornithine carbamoyl transferase deficiency depend on the age of onset. Respiratory distress on the first day of life does not allow exclusion of OCT deficiency in the individual patient. The acid-base status is not useful as a discriminant between urea-cycle disorders and organic acidurias. Beyond the neonatal age, a second period of increased risk for often lethal hyperammonaemic crises is found between 12 and 15 years of age. For definite diagnosis (pre- and postnatal) of heterozygotes the quantity of tissue obtained should be sufficient to obtain a representative sample for a mosaic structure. Experimental work gives some clues for the interpretation of reversible symptoms of hyperammonaemia. The increased transport of tryptophan at the blood-brain barrier in presence of increased glutamine concentration in tissue appears to depend on intact gammaglutamyl transpeptidase in brain microvessels and involves at least in part the L-carrier. Animal research on the mechanisms leading to irreversible damage in hyperammonaemia should be encouraged in order to define reliable predictive criteria for clinical decisions.