Kodama S, Seki A, Hanabusa M, Morisita Y, Sakurai T
Eur J Pediatr. 1976 Dec 9;124(1):31-6. doi: 10.1007/BF00452411.
Amino acids analysis were made on serum and cerebrospinal fluid samples of a Japanese 5-month-old infant suffering from irritability and mental retardation noticed at 2 months of age. Excessive amounts of branched-chain amino acids and of keto acids were detected in those samples and the large quantity of keto acids was found in urine with a qualitative 2,4-dinitro-phenyl-hydrazin test and with quantitative estimation. When thiamine hydrochloride (100 mg/day) was administered orally for 7 days to the patient fed with the cow's milk formula containing 2.1 gm/dl milk protein, there was no improvement of the branched-chain amino acidemia. Urinary keto acids, however, showed a marked decrease 7 days after the administration of thiamine hydrochloride. An overnight fast for 13 h resulted in normoglycemia. There was found no difference of blood L-lencine level between both parents and normal infants to whom L-leucine was loaded. The relation between decarboxylase activity for keto acids of branched-chain amino acids and thiamine hydrochloride was studied clinically, in the present communication.
对一名5个月大的日本婴儿的血清和脑脊液样本进行了氨基酸分析。该婴儿在2个月大时出现易怒和智力发育迟缓症状。在这些样本中检测到过量的支链氨基酸和酮酸，并且通过定性的2,4-二硝基苯肼试验和定量估计在尿液中发现了大量的酮酸。当给以含有2.1克/分升乳蛋白的牛奶配方奶喂养的患者口服盐酸硫胺素（100毫克/天）7天时，支链氨基酸血症没有改善。然而，在给予盐酸硫胺素7天后，尿酮酸显著减少。禁食13小时导致血糖正常。在给正常婴儿和双亲静脉注射L-亮氨酸后，发现他们血液中L-亮氨酸水平没有差异。本文从临床角度研究了支链氨基酸酮酸脱羧酶活性与盐酸硫胺素之间的关系。
