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Whole Blood Citrulline Concentrations in Newborns with Non-syndromic Oral Clefts-A Preliminary Report

非症候型唇顎裂的新生兒之全血瓜胺酸濃度-初步報告

摘要


瓜胺酸是食物中少量存在的胺基酸,只有葫蘆科的水果(例如西瓜等)以及樺樹的樹液除外,而這些都已被用來治療生殖系統失調數個世紀了。最近發表了一項關於瓜胺酸可能做為胚胎發育異常的生物標記的觀察,受到注意。我們的研究是調查新生兒的瓜胺酸濃度是否為顏面唇顎裂的潛在風險因子。由一項新生兒篩檢計劃中取得瓜胺酸濃度來進行回溯性分析。研究族群中包括52位有單純性唇裂伴隨有或無顎裂的小孩,107位無先天性異常的健康小孩作為對照組。全血瓜胺酸濃度是利用串聯式質譜儀進行測量。以瓜胺酸濃度的兩個切點,分成下列三個組別進行分析:(1)低濃度(小於8 μmol/L)(2)中等濃度(8-16 μmol/L)(3)高濃度(大於16 μmol/L)。低瓜胺酸濃度在先天性唇顎裂的小孩,比無異常的小孩更常見。對照組小孩具有高瓜胺酸濃度的比例為病例組的兩倍。本文研究結果,證實新生兒瓜胺酸濃度的狀態與先天性唇顎裂的危險性之間的可能關聯。呼籲需要此領域的進一步研究以及育齡婦女增加富含瓜胺酸的食物(或補充劑)攝取。

並列摘要


The amino acid citrulline is poorly represented in food, except for the Cucurbitaceae family of fruits (watermelons, etc.) and sap from birch trees, which have both been used in the treatment of reproductive disorders for centuries. Recently, an interesting observation was published regarding citrulline as a promising candidate biomarker of abnormal embryogenesis. Our study was undertaken to investigate the involvement of newborn citrulline concentrations as potential risk factors for orofacial clefting. We performed a retrospective analysis of citrulline concentrations obtained from the results of a newborn screening program. The study group consists of 52 children with isolated cleft lip with or without cleft palate. One hundred and seven healthy children without congenital anomalies serve as controls. Whole blood citrulline levels were measured using tandem mass spectrometry. Two cut-off points of citrulline concentrations were accepted and three groups of participants were analysed: those with (1) low concentrations (<8 μmol/L), (2) medium concentrations (8 - 16 μmol/L), and (3) high concentrations (>16 μmol/L). Low citrulline levels were significantly more frequent in patients with clefts than in children without congenital anomalies. In the control group, a high level of citrulline was observed nearly two times more often than in affected children (p=0.03). The presented findings, confirming a possible association between newborn citrulline status and the risk of an orofacial cleft, call for further studies in this area and consideration of increased consumption of foods rich in citrulline (or supplements) by women of childbearing age.

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