Schulze Andreas, Bachert Peter, Schlemmer Heinz, Harting Inga, Polster Tilman, Salomons Gajja S, Verhoeven Nanda M, Jakobs Cornelis, Fowler Brian, Hoffmann Georg F, Mayatepek Ertan
Division of Metabolic and Endocrine Diseases, Department of General Pediatrics, University Children's Hospital, Heidelberg, Germany.
Ann Neurol. 2003 Feb;53(2):248-51. doi: 10.1002/ana.10455.
Guanidinoacetate methyltransferase deficiency, which so far has been exclusively detected in children, was diagnosed in a 26-year-old man. The full-blown spectrum of clinical symptoms already had been present since infancy without progression of symptoms during adolescence. Cranial magnetic resonance imaging showed normal findings. Ophthalmological examination showed no retinal changes. Besides creatine deficiency in the brain, a distinct lack of phosphocreatine in skeletal muscle was proved by (31)P magnetic resonance spectroscopy. Creatine substitution combined with a guanidinoacetate-lowering diet introduced first at the age of 26 years was shown to be effective by an impressive improvement of epileptic seizures, mental capabilities, and general behavior and by normalization of the (31)P spectrum in the skeletal muscle.
胍基乙酸甲基转移酶缺乏症迄今为止仅在儿童中被检测到，而此次在一名26岁男性中被诊断出。自婴儿期起就已出现该疾病的全部临床症状谱，且在青春期症状未进展。头颅磁共振成像显示结果正常。眼科检查未发现视网膜改变。除了脑部肌酸缺乏外，通过磷磁共振波谱证实骨骼肌中明显缺乏磷酸肌酸。在26岁时首次采用肌酸替代疗法并结合降低胍基乙酸的饮食，结果显示癫痫发作、智力和一般行为有显著改善，骨骼肌磷波谱恢复正常，证明该疗法有效。
