目的探讨3-甲基巴豆酰辅酶A羧化酶缺乏症(3-methylcrotonyl-coenzyme A carboxylase deficiency,MCCD)患儿的临床及遗传学特征。方法回顾性分析2018年1月-2023年10月就诊于郑州大学附属儿童医院的6例MCCD患儿的临床表现及基因检测结果...目的探讨3-甲基巴豆酰辅酶A羧化酶缺乏症(3-methylcrotonyl-coenzyme A carboxylase deficiency,MCCD)患儿的临床及遗传学特征。方法回顾性分析2018年1月-2023年10月就诊于郑州大学附属儿童医院的6例MCCD患儿的临床表现及基因检测结果。结果6例MCCD患儿中,男性4例,女性2例,平均就诊年龄为7 d,平均确诊年龄为45 d。1例小便气味异常,5例无临床症状。6例患儿血3-羟基异戊酰肉碱、尿3-羟基异戊酸、3-甲基巴豆酰甘氨酸均增高,5例伴游离肉碱降低。共检出MCCC1基因变异6个:c.1630del(p.R544Dfs*2)、c.269A>G(p.D90G)、c.1609T>A(p.F537I)、c.639+2T>A、c.761+1G>T、c.1331G>A(p.R444H),以及MCCC2基因变异3个:c.838G>T(p.D280Y)、c.592C>T(p.Q198*,366)、c.1342G>A(p.G448A),其中MCCC1基因c.269A>G(p.D90G)、c.1609T>A(p.F537I)未见文献报道。1例为母源性MCCD,患儿携带来自母亲的一个杂合变异。5例伴游离肉碱降低患儿予补充左卡尼汀,末次随访时游离肉碱均恢复至正常水平。结论MCCC1基因c.269A>G(p.D90G)、c.1609T>A(p.F537I)为新发现的变异,丰富了MCCC1基因变异谱。血氨基酸及酰基肉碱谱和尿有机酸谱联合基因检测有助于MCCD早期诊断和治疗,并为遗传咨询提供参考。展开更多
A series of α-amino acids are obtained in 72-96% optical yields by alkylation of the ketimine derived from(+)-2-hydroxy-pinan-3-one and(-)-menthyl glycinate fol- lowed by hydrolysis of the alkylated intermediates wit...A series of α-amino acids are obtained in 72-96% optical yields by alkylation of the ketimine derived from(+)-2-hydroxy-pinan-3-one and(-)-menthyl glycinate fol- lowed by hydrolysis of the alkylated intermediates with mineral acid.The double asymmetric induction are explained by the transition model of lithium enolate.展开更多
Two-dimensional network Cu(Ⅱ) compound [Cu(HGS).H2O].H2O was synthesized and characterized by elemental analysis,IR spectrum,where GS is the schiff base N-N-3-carboxy salicylidene glycine.Its crystal structrue was de...Two-dimensional network Cu(Ⅱ) compound [Cu(HGS).H2O].H2O was synthesized and characterized by elemental analysis,IR spectrum,where GS is the schiff base N-N-3-carboxy salicylidene glycine.Its crystal structrue was determined by single crystal X-ray diffraction techniques.Crystal data are as fullows: monoclinic,space group a=0.84846(3) nm,b=0.68154(3)nm,c=1.96716(8)nm,α=90°,β=95.8210(10°),γ=90°,Z=4,Dc=1.883Mg/m3,Mr=320.74,μ=1.961,F(000)=652,R=0.0279,wR2=0.0722.The copper atom is five-coordinated in a distorted square pyramidal,by one N donor,two oxygen donors,and an exogenous water forming the bottom of the square-pyramidal,with an O atom of the adjacent molecule occupying the apical site.Crystal structure indicated that the complex has two-dimensional stacking network structrue,which is formed by intramolecular hydrogen bonds,intermolecular hydrogen bonds and stacking effect of aromatic ring.展开更多
基金This work was supported by the National Natural Science Foundation of China
文摘A series of α-amino acids are obtained in 72-96% optical yields by alkylation of the ketimine derived from(+)-2-hydroxy-pinan-3-one and(-)-menthyl glycinate fol- lowed by hydrolysis of the alkylated intermediates with mineral acid.The double asymmetric induction are explained by the transition model of lithium enolate.
文摘Two-dimensional network Cu(Ⅱ) compound [Cu(HGS).H2O].H2O was synthesized and characterized by elemental analysis,IR spectrum,where GS is the schiff base N-N-3-carboxy salicylidene glycine.Its crystal structrue was determined by single crystal X-ray diffraction techniques.Crystal data are as fullows: monoclinic,space group a=0.84846(3) nm,b=0.68154(3)nm,c=1.96716(8)nm,α=90°,β=95.8210(10°),γ=90°,Z=4,Dc=1.883Mg/m3,Mr=320.74,μ=1.961,F(000)=652,R=0.0279,wR2=0.0722.The copper atom is five-coordinated in a distorted square pyramidal,by one N donor,two oxygen donors,and an exogenous water forming the bottom of the square-pyramidal,with an O atom of the adjacent molecule occupying the apical site.Crystal structure indicated that the complex has two-dimensional stacking network structrue,which is formed by intramolecular hydrogen bonds,intermolecular hydrogen bonds and stacking effect of aromatic ring.
