Stöckler S, Holzbach U, Hanefeld F, Marquardt I, Helms G, Requart M, Hänicke W, Frahm J
Kinderklinik, Universität Göttingen, Germany.
Pediatr Res. 1994 Sep;36(3):409-13. doi: 10.1203/00006450-199409000-00023.
In a patient with extrapyramidal movement disorder and extremely low creatinine concentrations in serum and urine, in vivo proton magnetic resonance spectroscopy disclosed a generalized depletion of creatinine in the brain. Oral substitution of arginine, a substrate for creatine synthesis, resulted in an increase of brain guanidinoacetate as the immediate precursor of creatine but did not elevate cerebral creatine levels. In contrast, oral substitution of creatine-monohydrate led to a significant increase of brain creatine, a decrease of brain guanidinoacetate, and a normalization of creatinine in serum and urine. Phosphorus magnetic resonance spectroscopy of the brain revealed no detectable creatine-phosphate before oral substitution of creatine and a significant increase afterward. Partial restoration of cerebral creatine concentrations was accompanied by improvement of the patient's neurologic symptoms. This is the first report of a patient with complete creatine deficiency in the brain. Magnetic resonance spectroscopy during arginine and creatine treatment point to an inborn error of creatine biosynthesis at the level of guanidinoacetete-methyltransferase.
在一名患有锥体外系运动障碍且血清和尿液中肌酐浓度极低的患者中，体内质子磁共振波谱显示大脑中肌酐普遍缺乏。口服精氨酸（肌酸合成的底物）可使大脑中胍基乙酸（肌酸的直接前体）增加，但并未提高脑内肌酸水平。相比之下，口服一水肌酸可使脑内肌酸显著增加，脑内胍基乙酸减少，血清和尿液中的肌酐恢复正常。大脑的磷磁共振波谱显示，口服肌酸前未检测到磷酸肌酸，之后则显著增加。脑内肌酸浓度的部分恢复伴随着患者神经症状的改善。这是首例脑内完全缺乏肌酸患者的报告。精氨酸和肌酸治疗期间的磁共振波谱表明，在胍基乙酸甲基转移酶水平存在先天性肌酸生物合成缺陷。
