n.高胱氨酸尿症

Example: Homocystinuria is a rare genetic disorder characterized by the accumulation of homocysteine in the blood and urine.
同型半胱氨酸尿症是一种罕见的遗传性疾病，其特征是血液和尿液中同型半胱氨酸的积累。
Example: Patients with homocystinuria often exhibit symptoms such as dislocated lenses, skeletal abnormalities, and intellectual disability.
同型半胱氨酸尿症患者通常会出现晶状体脱位、骨骼异常和智力障碍等症状。
Example: Treatment for homocystinuria typically involves dietary modification and vitamin supplementation to reduce homocysteine levels.
治疗同型半胱氨酸尿症通常包括饮食调整和补充维生素以降低同型半胱氨酸水平。
Example: Early diagnosis and intervention can significantly improve the prognosis for individuals with homocystinuria.
对同型半胱氨酸尿症患者的早期诊断和干预可显著改善预后。
Example: Genetic testing plays a crucial role in identifying newborns at risk for developing homocystinuria.
基因检测在识别有同型半胱氨酸尿症风险的新生儿中起着关键作用。
Example: Homocystinuria is caused by mutations in genes responsible for processing the amino acid methionine.
同型半胱氨酸尿症是由负责处理氨基酸蛋氨酸的基因突变引起的。
Example: High levels of homocysteine associated with homocystinuria increase the risk of thrombotic events and cardiovascular disease.
与同型半胱氨酸尿症相关的高水平同型半胱氨酸会增加血栓事件和心血管疾病的风险。
Example: A low-methionine diet and high doses of vitamins B6, B9 (folate), and B12 are commonly prescribed for patients with homocystinuria.
低蛋氨酸饮食以及高剂量的维生素B6、B9（叶酸）和B12通常被用于治疗同型半胱氨酸尿症患者。
Example: The incidence of homocystinuria varies worldwide but it is estimated to occur in approximately 1 in 200,000 births.
同型半胱氨酸尿症的发病率在全球范围内有所不同，但据估计大约每20万个新生儿中就有1例。
Example: People with homocystinuria may have a characteristic 'marfanoid' appearance due to their connective tissue abnormalities.
由于结缔组织异常，同型半胱氨酸尿症患者可能具有典型的“马凡氏病”外观。