دانلود مقاله ISI انگلیسی شماره 143938
ترجمه فارسی عنوان مقاله

اختلالات چرخه ی اوره بالغ مبتلا به روانپزشک: یک سری موارد

عنوان انگلیسی
Psychiatric adult-onset of urea cycle disorders: A case-series
کد مقاله سال انتشار تعداد صفحات مقاله انگلیسی ترجمه فارسی
143938 2017 7 صفحه PDF سفارش دهید
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منبع

Publisher : Elsevier - Science Direct (الزویر - ساینس دایرکت)

Journal : Molecular Genetics and Metabolism Reports, Volume 12, September 2017, Pages 103-109

ترجمه کلمات کلیدی
اختلالات چرخه اوره کمبود اورنیتین ترانس کربامیلاز، هیپرامونمی، والپروات اختلالات روانپزشکی، تأخیر بزرگسالان
کلمات کلیدی انگلیسی
Urea cycle disorders; Ornithine transcarbamylase deficiency; Hyperammonemia; Valproate; Psychiatric decompensations; Late-onset; Adults;
پیش نمایش مقاله
پیش نمایش مقاله اختلالات چرخه ی اوره بالغ مبتلا به روانپزشک: یک سری موارد

چکیده انگلیسی

Adult onset urea cycle disorders (UCD) may present with psychiatric symptoms, occasionally as the initial presentation. We aimed to describe the characteristics of patients presenting with a psychiatric adult-onset of UCDs, to discuss which signs could suggest this diagnosis in such a situation, and to determine which tests should be conducted. A survey of psychiatric symptoms occurring in teenagers or adults with UCD was conducted in 2010 among clinicians involved in the French society for the study of inborn errors of metabolism (SFEIM). Fourteen patients from 14 to 57 years old were reported. Agitation was reported in 10 cases, perseveration in 5, delirium in 4, and disinhibition in 3 cases. Three patients had pre-existing psychiatric symptoms. All patients had neurological symptoms associated with psychiatric symptoms, such as ataxia or dysmetria, psychomotor slowing, seizures, or hallucinations. Fluctuations of consciousness and coma were reported in 9 cases. Digestive symptoms were reported in 7 cases. 9 patients had a personal history suggestive of UCD. The differential diagnoses most frequently considered were exogenous intoxication, non-convulsive status epilepticus, and meningoencephalitis. Hyperammonemia (180–600 μmol/L) was found in all patients. The outcome was severe: mechanical ventilation was required in 10 patients, 5 patients died, and only 4 patients survived without sequelae. Adult onset UCDs can present with predominant psychiatric symptoms, associated with neurological involvement. These patients, as well as patients presenting with a suspicion of intoxication, must have UCD considered and ammonia measured without delay.

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