Clinical findings of patients with hyperammonemia affected by urea cycle disorders with hepatic encephalopathy

尿素循环 高氨血症 鸟氨酸转氨酶缺乏症 医学 脑病 内科学 胃肠病学 鸟氨酸转氨酶 儿科 生物 生物化学 氨基酸 精氨酸
作者
Franciele Fátima Lopes,Ângela Sitta,Daniella de Moura Coelho,Graziela S. Ribas,Jéssica Lamberty Faverzani,Bianca Gomes dos Reis,Moacır Wajner,Carmen Regla Vargas
出处
期刊:International Journal of Developmental Neuroscience [Wiley]
卷期号:82 (8): 771-787 被引量:5
标识
DOI:10.1002/jdn.10229
摘要

Urea cycle disorders (UCD) are a group of genetic diseases caused by deficiencies in the enzymes and transporters involved in the urea cycle. The impairment of the cycle results in ammonia accumulation, leading to neurological dysfunctions and poor outcomes to affected patients. The aim of this study is to investigate and describe UCD patients' principal clinical and biochemical presentations to support professionals on urgent diagnosis and quick management, aiming better outcomes for patients. We explored medical records of 30 patients diagnosed in a referral center from Brazil to delineate UCD clinical and biochemical profile. Patients demonstrated a range of signs and symptoms, such as altered levels of consciousness, acute encephalopathy, seizures, progressive loss of appetite, vomiting, coma, and respiratory distress, in most cases combined with high levels of ammonia, which is an immediate biomarker, leading to a UCD suspicion. The most prevalent UCD detected were ornithine transcarbamylase deficiency, followed by citrullinemia type 1, hyperargininemia, carbamoyl phosphate synthase 1 deficiency, and argininosuccinic aciduria. Clinical symptoms were highly severe, being the majority developmental and neurological disabilities, with 20% of death rate. Laboratory analysis revealed high levels of ammonia (mean ± SD: 860 ± 470 μmol/L; reference value: ≤80 μmol/L), hypoglycemia, metabolic acidosis, and high excretion of orotic acid in the urine (except in carbamoyl phosphate synthetase 1 [CPS1] deficiency). We emphasize the need of urgent identification of UCD clinical and biochemical conditions, and immediate measurement of ammonia, to enable the correct diagnosis and increase the chances of patients' survival, minimizing neurological and psychomotor damage caused by hepatic encephalopathy.

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