Ornithine transcarbamylase deficiency diagnosed in pregnancy
Ornithine transcarbamylase deficiency diagnosed in pregnancy
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DOI：
10.3109/09513590.2011.569787
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发表时间：
2011-12-01
影响因子：
2
通讯作者：
Acbay, Ozer
中科院分区：
文献类型：
--
作者：
Celik, Ozlem;Buyuktas, Deram;Acbay, Ozer
尿素循环酶缺乏症是一种罕见的代谢紊乱。鸟氨酸转氨甲酰酶（OTC）缺乏症是最常见的类型。该综合征是由于线粒体酶OTC缺乏引起的，该酶催化鸟氨酸和氨基甲酰磷酸转化为瓜氨酸。它表现为X连锁遗传，通常在婴儿晚期或幼儿期之前保持无症状。症状的严重程度取决于患者的年龄和高氨血症的持续时间。女性杂合子更难诊断。创伤、感染、手术、分娩、肠外营养和开始丙戊酸钠治疗可引发高血氨期。OTC缺乏症的预后对于婴儿期后发病的患者更好，但脑损伤的发病率似乎与高氨血症发作的次数无关。然而，早期诊断和及时开始降氨治疗对这些患者的生存至关重要。本病例介绍了一位在怀孕期间精神错乱后被诊断为OTC缺乏症的患者。
Urea cycle enzymes deficiencies are rare metabolic disorders. Ornithine transcarbamylase (OTC) deficiency is the most common type. The syndrome results from a deficiency of the mitochondrial enzyme OTC which catalyses the conversion of ornithine and carbamoyl phosphate to citrulline. It shows X-linked inheritance and typically remains asymptomatic until late infancy or early childhood. The severity of the symptoms depends on the age of the patient and the duration of hyperammonemia. Female heterozygotes are more difficult to diagnose. They suffer from hyperammonemic periods which can be triggered by trauma, infections, surgery, childbirth, parenteral nutrition, and by the initiation of sodium valproate therapy. The prognosis of OTC deficiency is better for those with an onset after infancy, but morbidity from brain damage does not appear to be linked to the number of episodes of hyperammonemia that have occurred. However, early diagnosis and prompt initiation of ammonia-lowering treatment are essential for survival of these patients. This case presents a patient who was diagnosed with OTC deficiency following mental confusion during pregnancy.