Enamel defects and salivary methylmalonate in methylmalonic acidemia.
Enamel defects and salivary methylmalonate in methylmalonic acidemia.
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DOI：
10.1111/j.1601-0825.2008.01509.x
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发表时间：
2009-04
期刊：
影响因子：
3.8
通讯作者：
Hart TC
中科院分区：
文献类型：
--
作者：
Bassim CW;Wright JT;Guadagnini JP;Muralidharan R;Sloan J;Domingo DL;Venditti CP;Hart TC
描述甲基丙二酸血症（MMA）和钴胺素代谢紊乱患者的釉质缺损特征，并检查MMA中唾液甲基丙二酸水平。对患者（n=32）的牙齿进行釉质缺损评估，并与年龄和性别匹配的对照组（n=55）进行比较。检测补体类型（mut、cblA、cblB、cblC）和血清甲基丙二酸水平。从两名患者的乳牙进行了检查，光镜和扫描电子显微镜和唾液甲基丙二酸水平从两名患者进行了分析。在所有互补类型中，受影响组的每颗牙齿的釉质缺损率明显高于对照组（p<0.0001）。Mut MMA亚组的严重釉质缺损患病率显著高于对照组（p=0.021），有釉质缺损的患者血清甲基丙二酸水平高于无釉质缺损的患者（p=0.017）。唾液甲基丙二酸水平极高，显著高于对照组（p=0.002）。乳牙釉质缺损，除了两个cblC患者表现出严重的釉质发育不全。一个乳牙从cblC患者表现出显着改变晶体显微结构。釉质异常是MMA和钴胺素代谢紊乱的表型表现。这些发现表明釉质发育病理学和代谢紊乱之间存在关联。
To characterize enamel defects in patients with methylmalonic acidemia (MMA) and cobalamin metabolic disorders and to examine salivary methylmalonate levels in MMA. Teeth from patients (n=32) were evaluated for enamel defects and compared with age- and gender-matched controls (n=55). Complementation class (mut, cblA, cblB, cblC) and serum methylmalonate levels were examined. Primary teeth from two patients were examined by light and scanning electron microscopy and salivary methylmalonate levels from two patients were analyzed. Enamel defects were significantly more prevalent per tooth in the affected group than the control group, across complementation types (p<0.0001). The mut MMA subgroup had a significantly higher prevalence per individual of severe enamel defects than controls (p=0.021), and those with enamel defects exhibited higher serum methylmalonate levels than those without (p=0.017). Salivary methylmalonate levels were extremely elevated and were significantly higher than controls (p=0.002). Primary teeth were free of enamel defects except for two cblC patients who exhibited severe enamel hypoplasia. One primary tooth from a cblC patient manifested markedly altered crystal microstructure. Enamel anomalies represent a phenotypic manifestation of MMA and cobalamin metabolic disorders. These findings suggest an association between enamel developmental pathology and disordered metabolism.
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影响因子：
2.7
作者：
Hu, Jan C. -C.;Chun, Yong-Hee P.;Simmer, James P.
通讯作者：
Simmer, James P.
影响因子：
4.2
作者：
de Baulny, HO;Benoist, JF;Saudubray, JM
通讯作者：
Saudubray, JM
影响因子：
--
作者：
Chandler RJ;Sloan J;Fu H;Tsai M;Stabler S;Allen R;Kaestner KH;Kazazian HH;Venditti CP
通讯作者：
Venditti CP
影响因子：
3
作者：
Hart, PS;Michalec, MD;Wright, JT
通讯作者：
Wright, JT
影响因子：
4.2
作者：
Leonard, JV;Walter, JH;McKiernan, PJ
通讯作者：
McKiernan, PJ