n.高甘氨酸血症

Hyperglycinemia is a metabolic disorder characterized by an excessive amount of glycine in the blood.
高甘氨酸血症是一种代谢紊乱疾病，其特征是血液中甘氨酸含量过高。
Neonatal hyperglycinemia can lead to severe neurological damage and developmental delay.
新生儿高甘氨酸血症可能导致严重的神经损伤和发育迟缓。
The patient was diagnosed with nonketotic hyperglycinemia after presenting with lethargy and seizures.
患者出现嗜睡和癫痫发作后被诊断为非酮性高甘氨酸血症。
Early detection and treatment of primary hyperglycinemia are crucial to prevent irreversible brain damage.
早期发现并治疗原发性高甘氨酸血症对于防止不可逆的脑损伤至关重要。
Dietary restrictions and supplements are often recommended for individuals with secondary hyperglycinemia.
对于患有继发性高甘氨酸血症的个体，通常建议饮食限制和补充营养素。
Genetic testing can help identify mutations responsible for inherited forms of hyperglycinemia.
基因检测有助于识别导致遗传性高甘氨酸血症的突变。
In cases of severe hyperglycinemia, hemodialysis may be necessary to remove excess glycine from the bloodstream.
在严重高甘氨酸血症病例中，可能需要进行血液透析以从血液中去除过量的甘氨酸。
Hyperglycinemia is often detected through routine newborn screening tests using tandem mass spectrometry.
高甘氨酸血症通常通过串联质谱法进行的常规新生儿筛查检测出来。
Long-term complications of untreated hyperglycinemia include intellectual disability, spasticity, and respiratory distress.
未经治疗的高甘氨酸血症的长期并发症包括智力障碍、痉挛以及呼吸困难。
Treatment plans for hyperglycinemia vary depending on the severity and cause of the condition.
针对高甘氨酸血症的治疗方案根据病情的严重程度及其原因而有所不同。