BACKGROUND Cerebrotendinous xanthomatosis (CTX) and Lathosterolosis represent two treatable inherited disorders of cholesterol metabolism that are characterized by the accumulation of cholestanol and lathosterol, respectively. The age of the patients suspected of having these disorders is highly variable due to the very different phenotypes. The early diagnosis of these disorders is important because specific therapeutic treatment could prevent the disease progression. The biochemical diagnosis of these defects is generally performed analyzing the sterol profile. Since age-related levels of these sterols are lacking, this study aims to determine a preliminary comparison of plasma levels of cholestanol and lathosterol among Italian unaffected newborns, children and healthy adults. METHODS The sterols were extracted from 130 plasma samples (24 newborns, 33 children and 73 adults) by a liquid-liquid separation method and quantified by gas chromatography coupled with a flame ionization detector. RESULTS Cholesterol, cholestanol and lathosterol levels together with the cholestanol/cholesterol and lathosterol/cholesterol ratios are statistically different among the three groups. Cholesterol levels progressively increased from newborns to children and to adults, whereas cholestanol/cholesterol and cholestanol/lathosterol ratios progressively decreased from newborns to children and to adults. Lathosterol levels were higher in adults than in both newborns and children. In the total population a positive correlation was observed between cholesterol levels and both cholestanol (correlation coefficient = 0.290, p = 0.001) and lathosterol levels (correlation coefficient = 0.353, p <  0.0001). CONCLUSIONS Although this study can only be considered an explorative experience due to the low number of analyzed samples, we revealed several differences of plasma cholestanol and lathosterol levels and their ratios to cholesterol levels among newborns, children and adults. These evidences indicate the need of age-related reference values of cholestanol and lathosterol concentrations, including also newborns and children.

中文翻译：

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胆固醇和谷甾醇血浆浓度随年龄的变化：一项探索性研究。

背景技术脑腱黄瘤病（CTX）和脂蛋白沉着症代表两种可治疗的胆固醇代谢的遗传性疾病，其分别以胆固醇和胆甾醇的蓄积为特征。由于非常不同的表型，怀疑患有这些疾病的患者的年龄是高度可变的。这些疾病的早期诊断很重要，因为特定的治疗方法可以预防疾病的进展。这些缺陷的生化诊断通常是通过分析甾醇谱进行的。由于缺乏与年龄相关的这些固醇水平，因此本研究旨在确定未受影响的意大利新生儿，儿童和健康成年人中胆固醇和胆固醇的血浆水平的初步比较。方法采用液-液分离法从130个血浆样品（24名新生儿，33名儿童和73名成人）中提取甾醇，并通过气相色谱法和火焰离子化检测器进行定量。结果在三组中，胆固醇，胆固醇和谷甾醇的含量以及胆固醇/胆固醇和谷甾醇/胆固醇的比例在统计学上是不同的。从新生儿到儿童和成年人，胆固醇水平逐渐升高，而从新生儿到儿童和成年人，胆固醇/胆固醇和胆固醇/拉丝甾醇的比例逐渐降低。成人中的胆固醇含量高于新生儿和儿童。在总人群中，胆固醇水平与两种胆固醇都呈正相关（相关系数= 0.290，p = 0）。001）和谷甾醇水平（相关系数= 0.353，p <0.0001）。结论尽管由于分析的样本数量少，该研究只能被视为探索性的经验，但我们揭示了新生儿，儿童和成人中血浆胆固醇和胆固醇的水平及其与胆固醇水平的比率存在一些差异。这些证据表明需要与胆固醇和年龄相关的胆固醇和年龄相关参考值，包括新生儿和儿童。