瓜氨酸血症

Citrullinemia is a rare genetic disorder that affects the metabolism of arginine.
瓜氨酸血症是一种罕见的遗传性疾病，影响精氨酸的代谢。
The patient was diagnosed with type I citrullinemia due to a deficiency in the enzyme responsible for converting arginine to citrulline.
这位患者被诊断为第一型瓜氨酸血症，因为缺乏将精氨酸转化为瓜氨酸的酶。
Early detection and management of citrullinemia are crucial for preventing severe complications in children.
对瓜氨酸血症的早期检测和管理对于防止儿童出现严重并发症至关重要。
A newborn screening test was implemented to identify infants with citrullinemia, allowing for prompt intervention.
新生儿筛查项目被实施，以识别出患有瓜氨酸血症的婴儿，从而进行及时干预。
Symptoms of citrullinemia can include vomiting, seizures, and failure to thrive in infants.
瓜氨酸血症的症状可能包括婴儿呕吐、抽搐和发育迟缓。
Treatment for citrullinemia often involves dietary modifications and supplementation with essential amino acids like arginine.
对于瓜氨酸血症的治疗通常包括调整饮食并补充必需氨基酸，如精氨酸。
Researchers are working on gene therapy as a potential long-term solution for citrullinemia.
研究人员正在研究基因疗法作为瓜氨酸血症的长期解决方案。
Citrullinemia is inherited in an autosomal recessive pattern, meaning both parents must carry the mutated gene for a child to be affected.
瓜氨酸血症是常染色体隐性遗传，这意味着患病儿童的父母都必须携带突变基因。
Regular monitoring and medical care are necessary for individuals with citrullinemia to manage their condition effectively.
对于瓜氨酸血症患者，定期监测和医疗护理是有效管理病情的关键。
Early intervention and support groups have been instrumental in improving the quality of life for people living with citrullinemia.
早期干预和互助小组在提高瓜氨酸血症患者生活质量方面发挥了重要作用。