Moreno-Fuenmayor H, Borjas L, Arrieta A, Valera V, Socorro-Candanoza L
Servicio de Medicina Genética Perinatal, Hospital Chiquinquirá, Maracaibo, Venezuela.
Invest Clin. 1996 Jun;37(2):113-28.
Plasma amino acid levels were measured by high pressure liquid chromatography (HPLC) in fourteen autistic children, all below 10 years of age. Mean glutamic and aspartic acid valued were elevated (169 +/- 142 uM and 22.1 +/- 13 uM respectively) together with taurine (90.1 +/- 78.7 uM) (p > 0.1). All affected children had low levels of glutamine (241 +/- 166 uM; p < 0.01) and asparagine (22.9 +/- 12.9 uM; p < 0.01) as compared to normal values (585 +/- 25 and 59.2 +/- 4.2 uM respectively); eleven children had increased aspartic acid and eight children had high levels of glutamate; seven of these children had a concomitant increment of taurine. The increment of the three above mentioned compounds was observed at the same time only in five children. These findings demonstrate that abnormal plasmatic levels of neurotransmitter amino acids may be found in some autistic children. Increased glutamatemia may be dietary in origin or may arise endogenously for several reasons, among others, metabolic derrangements in glutamate metabolism perhaps involving vitamin B6, defects or blockage of the glutamate receptor at the neuronal compartment, or alterations in the function of the neurotransmitters transporters. Increments of taurine, an inhibitor, is likely compensatory and calcium dependent.
采用高压液相色谱法（HPLC）对14名10岁以下自闭症儿童的血浆氨基酸水平进行了测量。谷氨酸和天冬氨酸的平均水平升高（分别为169±142μM和22.1±13μM），牛磺酸水平也升高（90.1±78.7μM）（p>0.1）。与正常值（分别为585±25μM和59.2±4.2μM）相比，所有患病儿童的谷氨酰胺水平较低（241±166μM；p<0.01），天冬酰胺水平较低（22.9±12.9μM；p<0.01）；11名儿童天冬氨酸增加，8名儿童谷氨酸水平较高；其中7名儿童同时伴有牛磺酸增加。上述三种化合物的增加仅在5名儿童中同时出现。这些发现表明，一些自闭症儿童可能存在神经递质氨基酸的血浆水平异常。谷氨酸血症增加可能源于饮食，也可能由于多种原因内源性产生，其中包括谷氨酸代谢的代谢紊乱，可能涉及维生素B6、神经元区室谷氨酸受体的缺陷或阻断，或神经递质转运体功能的改变。牛磺酸作为一种抑制剂，其增加可能具有代偿性且依赖于钙。
