Homocysteine and methylmalonic acid in Phenylketonuria patients

IF 16.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY

Accounts of Chemical Research Pub Date : 2024-04-05 DOI:10.1590/1678-4685-gmb-2023-0103

Giovana Regina Weber Hoss, Fernanda Sperb-Ludwig, Tássia Tonon, Soraia Poloni, Sidney Behringer, Henk J. Blom, François Maillot, Ida Vanessa Doederlein Schwartz

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Abstract

Abstract Hyperhomocysteinemia and vitamin B12 deficiency have been reported in patients with phenylketonuria. In this study, total homocysteine (tHcy) and methylmalonic acid (MMA) levels were analyzed in samples from 25 phenylketonuria (PKU) patients. Comparisons were made between pre- and post-treatment values (n= 3); on treatment values, between periods with high and normal/low phenylalanine (Phe) levels (n= 20); and in women before, during and after pregnancy (n= 3). THcy levels decreased after treating PKU with metabolic formula (p=0.014). Except for a pregnant woman before pregnancy, none of the patients had tHcy values above the normal range. In fact, tHcy was < 5 μmol/L in 34% of the samples. We observed a decrease in Phe, tHcy, and tyrosine levels during pregnancy. MMA levels did not differ significantly, with values remaining in the normal range. These data indicate that there was no B12 deficiency in patients who adhere to the diet. In conclusion, in PKU patients treated with metabolic formula, tHcy is frequently not elevated, remaining even in the lower normal range in some patients. Thus, clinical follow-up and adherence to dietary treatment are crucial to prevent B12 deficiency.

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苯丙酮尿症患者体内的同型半胱氨酸和甲基丙二酸

摘要据报道，苯丙酮尿症患者存在高同型半胱氨酸血症和维生素 B12 缺乏症。本研究分析了 25 名苯丙酮尿症（PKU）患者样本中的总同型半胱氨酸（tHcy）和甲基丙二酸（MMA）水平。比较了治疗前和治疗后的数值（3 人）；治疗值、苯丙氨酸（Phe）水平高和正常/低的时期（20 人）；以及妇女怀孕前、怀孕期间和怀孕后的数值（3 人）。使用代谢配方治疗 PKU 后，THcy 水平下降（p=0.014）。除一名怀孕前的孕妇外，其他患者的 tHcy 值均未超过正常范围。事实上，34% 的样本中 tHcy 值小于 5 μmol/L。我们观察到，妊娠期间 Phe、tHcy 和酪氨酸水平均有所下降。MMA 的水平差异不大，仍处于正常范围。这些数据表明，坚持饮食的患者不会出现 B12 缺乏症。总之，在接受代谢配方治疗的 PKU 患者中，tHcy 通常不会升高，有些患者甚至会保持在正常值的较低范围。因此，临床随访和坚持饮食治疗对预防 B12 缺乏至关重要。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Accounts of Chemical Research 化学-化学综合

CiteScore

31.40

自引率

1.10%

发文量

312

审稿时长

2 months

期刊介绍： Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance. Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.