Lindstedt S, Norberg K, Steen G, Wahl E
Clin Chem. 1976 Aug;22(8):1330-8.
Gas chromatography/mass spectrometry was used to identify a series of acids in urine and serum from a child who died 26 h after birth in severe metabolic acidosis with high lactate excretion. cis-5-Decene-1, 10-dioic acid and cis-5-dodencene-1, 12-dioic acid were synthesized and used as references. The following acids were found: hexane-1,6-dioic acid, octane-1,8-dioic acid, decane-1,10-dioic acid, dodecane-1,12-dioic acid, cis-5-decene-1,10-dioic acid, cis-5-dodecen-1,12-dioic acid, cis-5-tetradecene-1,14-dioic acid, trans-3-decene-1,10-dioic acid, and trans-3-dodecene-1,12-dioic acid. The concentration of C6 to C14 acids in the patient's urine was 3.7 mol/mol of creatinine; it was less than 0.2 mol/mol of creatinine in eight normal newborns and approximately 0.1 mol/mol of creatinine in a case of fructose-1,6-biphosphatase deficiency with lactic acidosis. 5-cis-Dodecenedioic acid was present in highest concentration: 1 mol/mol of creatinine in urine and 61 mumol/liter in serum. We propose that impaired beta-oxidation, probably at the acyl-CoA-dehydrogenase step, resulted in the formation of the observed acids. The parents were consanguineous, and a sibling died with the same clinical picture, which suggests a genetic defect.
采用气相色谱/质谱联用技术，对一名出生后26小时死于严重代谢性酸中毒且乳酸排泄量高的患儿的尿液和血清中的一系列酸进行了鉴定。合成了顺式-5-癸烯-1,10-二酸和顺式-5-十二碳烯-1,12-二酸并用作参照。发现了以下几种酸：己烷-1,6-二酸、辛烷-1,8-二酸、癸烷-1,10-二酸、十二烷-1,12-二酸、顺式-5-癸烯-1,10-二酸、顺式-5-十二碳烯-1,12-二酸、顺式-5-十四碳烯-1,14-二酸、反式-3-癸烯-1,10-二酸和反式-3-十二碳烯-1,12-二酸。患儿尿液中C6至C14酸的浓度为3.7 μmol/mol肌酐；8名正常新生儿的该浓度低于0.2 μmol/mol肌酐，在一例患有果糖-1,6-二磷酸酶缺乏症并伴有乳酸性酸中毒的病例中约为0.1 μmol/mol肌酐。5-顺式-十二碳烯二酸的浓度最高：尿液中为1 μmol/mol肌酐，血清中为61 μmol/L。我们推测，β-氧化受损，可能是在酰基辅酶A脱氢酶步骤，导致了所观察到的酸的形成。患儿父母为近亲结婚，其一名同胞有相同的临床表现，这提示存在遗传缺陷。
