精氨酸血症

The patient was diagnosed with argininemia, a rare genetic disorder affecting amino acid metabolism.
这名患者被诊断为精氨酸缺乏症，这是一种影响氨基酸代谢的罕见遗传病。
Argininemia is characterized by low levels of arginine in the blood, leading to various health complications.
精氨酸缺乏症的特征是血液中精氨酸含量低，导致多种健康问题。
Early intervention is crucial for managing argininemia, as it can prevent severe neurological issues in children.
对精氨酸缺乏症的早期干预至关重要，因为它可以防止儿童出现严重的神经系统问题。
Symptoms of argininemia, such as seizures and intellectual disability, often become apparent in infancy or early childhood.
精氨酸缺乏症的症状，如抽搐和智力障碍，通常在婴儿或幼儿期显现。
Amino acid analysis revealed a deficiency in arginine, confirming the diagnosis of argininemia.
氨基酸分析显示精氨酸不足，从而证实了精氨酸缺乏症的诊断。
Genetic counseling is offered to families with a history of argininemia to manage the risk of passing on the condition to their offspring.
对有精氨酸缺乏症家族史的家庭提供遗传咨询，以管理将疾病传给后代的风险。
Treatment for argininemia involves dietary modifications and supplementation with L-arginine, an essential amino acid.
精氨酸缺乏症的治疗包括饮食调整和补充必需氨基酸L-精氨酸。
Long-term monitoring of argininemia patients is necessary to track the effectiveness of treatment and adjust therapy if needed.
长期监测精氨酸缺乏症患者是为了追踪治疗效果，并根据需要调整疗法。
Doctors monitor liver function in argininemia patients, as the condition can affect organ function and lead to liver damage.
医生会监控精氨酸缺乏症患者的肝脏功能，因为该病可能影响器官功能并导致肝损伤。
With proper management, individuals with argininemia can lead relatively normal lives, although they may require lifelong medical support.
在适当管理下，精氨酸缺乏症患者可以过上相对正常的生活，尽管可能需要终身医疗支持。