Matsuo M, Saiki K, Momota T, Ishida A, Kanazawa K, Murakami R, Nakamura H, Matsuo T
Acta Paediatr Jpn. 1989 Apr;31(2):211-5. doi: 10.1111/j.1442-200x.1989.tb01291.x.
In a cholestatic infant showing hypoglycemia and cardiac failure, non-ketotic medium-chain dicarboxylic aciduria was disclosed by urinary organic acid analysis. As urinary excretion of long-chain fatty acids was also increased, a defect in beta-oxidation of long-chain fatty acids appeared likely. To try to improve this abnormality, carnitine supplements were given, which led to the complete resolution of clinical and laboratory abnormalities. This is the first reported case of a cholestatic infant who responded to carnitine supplementation. Deficiency of carnitine palmitoyl transferase was suspected as the underlying cause.
在一名出现低血糖和心力衰竭的胆汁淤积性婴儿中，通过尿有机酸分析发现了非酮症性中链二羧酸尿症。由于长链脂肪酸的尿排泄量也增加，长链脂肪酸的β氧化缺陷似乎很可能存在。为了尝试改善这种异常情况，给予了肉碱补充剂，这导致临床和实验室异常完全得到解决。这是首例报道的对肉碱补充有反应的胆汁淤积性婴儿病例。怀疑肉碱棕榈酰转移酶缺乏是潜在病因。
