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Abstract：
Phenylketonuria (PKU) is the most prevalent inborn error of amino acid metabolism. The disease is due to the deficiency of phenylalanine (Phe) hydroxylase activity, which causes the accumulation of Phe. Early diagnosis through neonatal screening is essential for early treatment implementation, avoiding cognitive impairment and other irreversible sequelae. Treatment is based on Phe restriction in the diet that should be maintained throughout life. High dietary restrictions can lead to imbalances in specific nutrients, notably lipids. Previous studies in PKU patients revealed changes in levels of plasma/serum lipoprotein lipids, as well as in fatty acid profile of plasma and red blood cells. Most studies showed a decrease in important polyunsaturated fatty acids, namely DHA (22:6n-3), AA (20:4n-6) and EPA (20:5n-6). Increased oxidative stress and subsequent lipid peroxidation have also been observed in PKU. Despite the evidences that the lipid profile is changed in PKU patients, more studies are needed to understand in detail how lipidome is affected. As highlighted in this review, mass spectrometry-based lipidomics is a promising approach to evaluate the effect of the diet restrictions on lipid metabolism in PKU patients, monitor their outcome, namely concerning the risk for other chronic diseases, and find possible prognosis biomarkers.
摘要：
苯丙酮尿症（PKU）是氨基酸代谢最常见的先天性错误。该疾病是由于苯丙氨酸（Phe）羟化酶活性的缺乏，这导致了Phe的积累。通过新生儿筛查进行早期诊断对于早期治疗实施至关重要，避免认知障碍和其他不可逆的后遗症。治疗基于饮食中的Phe限制，应在一生中保持这种限制。高饮食限制会导致特定营养素的不平衡，特别是脂质。先前在PKU患者中的研究显示血浆/血清脂蛋白脂质水平的变化，以及血浆和红细胞的脂肪酸谱。大多数研究表明，重要的多不饱和脂肪酸减少，即DHA(22:6n-3)，AA(20:4n-6)和EPA(20:5n-6)。在PKU中还观察到增加的氧化应激和随后的脂质过氧化。尽管有证据表明PKU患者的血脂变化，需要更多的研究来详细了解脂质组是如何受到影响的.正如这篇评论所强调的那样，基于质谱的脂质组学是评估饮食限制对PKU患者脂质代谢影响的一种有前途的方法，监测他们的结果，即关于其他慢性病的风险，并找到可能的预后生物标志物。
