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Neurological outcome of patients with ornithine carbamoyltransferase deficiency.鸟氨酸氨甲酰基转移酶缺乏症患者的神经学转归
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Ornithine carbamoyltransferase deficiency.
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Late onset ornithine carbamoyl transferase deficiency in males.男性迟发性鸟氨酸氨甲酰基转移酶缺乏症
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本文引用的文献

1
Conditions affecting the colorimetry of orotic acid and orotidine in urine.影响尿液中乳清酸和乳清苷比色法测定的因素
Clin Chem. 1980 Mar;26(3):473-9.
2
Partial ornithine transcarbamylase deficiency simulating Reye syndrome.
J Pediatr. 1981 Dec;99(6):929-31. doi: 10.1016/s0022-3476(81)80025-x.
3
Ornithine transcarbamylase deficiency in a boy with normal development.
J Pediatr. 1980 Mar;96(3 Pt 1):441-3. doi: 10.1016/s0022-3476(80)80694-9.
4
Liver peroxisome damage during acute hepatic failure in partial ornithine transcarbamylase deficiency.部分鸟氨酸转氨甲酰酶缺乏症导致急性肝衰竭时肝脏过氧化物酶体损伤。
Pediatr Res. 1982 Dec;16(12):977-81. doi: 10.1203/00006450-198212000-00001.
5
Neurological features and computed tomography of the brain in children with ornithine carbamoyl transferase deficiency.鸟氨酸氨甲酰基转移酶缺乏症患儿的神经学特征及脑部计算机断层扫描
J Neurol Neurosurg Psychiatry. 1983 Jan;46(1):28-34. doi: 10.1136/jnnp.46.1.28.
6
Ornithine carbamoyltransferase deficiency in an adult male patient: significance of hepatic ultrastructure in clinical diagnosis.
Pediatrics. 1983 Feb;71(2):224-32.
7
Hyperammonaemia. A variant type of deficiency of liver ornithine transcarbamylase.高氨血症。肝脏鸟氨酸转氨甲酰酶缺乏的一种变异类型。
Arch Dis Child. 1969 Apr;44(234):162-9. doi: 10.1136/adc.44.234.162.
8
[Hereditary ornithine-carbamyl-transferase deficiency with qualitative enzyme abnormality. Report of a form with neonatal revelation and fatal course in a boy].
Arch Fr Pediatr. 1973 Jan;30(1):15-27.
9
Chronic benzoate therapy in a boy with partial ornithine transcarbamylase deficiency.
J Pediatr. 1985 May;106(5):794-7. doi: 10.1016/s0022-3476(85)80359-0.
10
Ornithine transcarbamylase deficiency--a cause of bizarre behavior in a man.
N Engl J Med. 1986 Sep 18;315(12):744-7. doi: 10.1056/NEJM198609183151207.

男性迟发性鸟氨酸氨甲酰基转移酶缺乏症

Late onset ornithine carbamoyl transferase deficiency in males.

作者信息

Drogari E, Leonard J V

机构信息

Department of Child Health, Institute of Child Health, London.

出版信息

Arch Dis Child. 1988 Nov;63(11):1363-7. doi: 10.1136/adc.63.11.1363.

DOI:10.1136/adc.63.11.1363
PMID:3202644
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1779164/
Abstract

Six boys with ornithine carbamoyl transferase deficiency presenting in infancy or later childhood are described. There was wide variation in both the time of presentation and the symptoms, which may initially suggest a neurological, behavioural, or gastroenterological problem. Two patients died, as did two male siblings who were probably affected, but with early recognition of the hyperammonaemia the outlook is good.

摘要

本文描述了6例在婴儿期或儿童期后期出现鸟氨酸氨甲酰基转移酶缺乏症的男孩。发病时间和症状差异很大，最初可能提示存在神经、行为或胃肠问题。两名患者死亡，两名可能患病的男性同胞也死亡，但如果能早期识别高氨血症，预后良好。