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目的观察半乳糖血症患儿血浆氨基酸的变化特点及其与疾病的关系。方法对10例半乳糖血症患儿于饮食限制治疗前(疾病期)、后(恢复期)进行血浆17种游离氨基酸测定,并与52例年龄和性别相匹配的正常健康儿童比较。结果半乳糖血症患儿治疗前血浆组氨酸、苏氨酸、瓜氨酸、精氨酸、酪氨酸、蛋氨酸均明显升高,谷氨酰胺、丙氨酸、缬氨酸、色氨酸、异亮氨酸、亮氨酸明显降低,治疗好转后除血浆色氨酸较治疗前升高、蛋氨酸较治疗前下降外,其余氨基酸于治疗前后无明显变化。结论半乳糖血症患儿治疗前血浆氨基酸谱有明显改变,酪氨酸、瓜氨酸和蛋氨酸的变化与遗传性代谢缺陷病所致酪氨酸血症、瓜氨酸血症和蛋氨酸血症类似,仅检测血浆氨基酸水平难以与上述疾病鉴别;半乳糖血症患儿血浆氨基酸变化与肝功能异常无关,可能与疾病本身代谢异常有关;肝功能正常或异常的黄疸、肝脾肿大患儿血浆氨基酸异常,需警惕遗传代谢缺陷病的可能。
Objective To observe the changes of plasma amino acids in children with galactosemia and its relationship with disease. Methods Seventeen patients with galactosemia were tested for 17 kinds of free amino acids before and after dietary restriction treatment (disease period) and afterwards (convalescence period), and compared with 52 normal and healthy children of age and gender. Results Serum levels of histidine, threonine, citrulline, arginine, tyrosine and methionine were significantly elevated in children with galactosemia before treatment. Glutamine, alanine, valine, tryptophan Acid, isoleucine, leucine significantly reduced after treatment, except for plasma tryptophan than before treatment increased, methionine decreased before treatment, the remaining amino acids before and after treatment no significant change. Conclusion The plasma amino acid profile of children with galactosemia before treatment has obvious changes. The changes of tyrosine, citrulline and methionine are associated with tyrosinemia, citrullinemia and methioninemia caused by hereditary metabolic deficiency Similarly, the detection of plasma amino acid level is difficult to identify with the above diseases; galactosemia in children with plasma amino acid changes and liver dysfunction has nothing to do with the disease itself may be related to metabolic abnormalities; liver function is normal or abnormal jaundice, liver and spleen enlargement Abnormal plasma amino acids, the need to guard against the possibility of genetic metabolic defects.