Bergman A J, Van der Knaap M S, Smeitink J A, Duran M, Dorland L, Valk J, Poll-The B T
Department of Metabolic Diseases, University Children's Hospital Het Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands.
Pediatr Res. 1996 Sep;40(3):404-9. doi: 10.1203/00006450-199609000-00007.
Three patients with propionic acidemia were studied. The first patient was diagnosed at the age of 9 mo, 3 mo after he developed hypotonia and choreoathetoid movements after an upper respiratory tract infection. The second patient was diagnosed at the age of 1.5 mo when she became comatose after nasogastric tube feeding because of failure to thrive. The third patient was diagnosed at the age of 5 d when she presented with feeding difficulties, hypotonia, and respiratory insufficiency. Magnetic resonance imaging (MRI) of the brain in all patients revealed delayed myelination and some cerebral atrophy. In the patient with choreoathetosis, MRI showed bilateral abnormalities in the signal intensity of the putamen and caudate nuclei. MRI of the other two patients showed normal basal ganglia. Proton magnetic resonance spectroscopy (1H MRS) from a voxel located in the basal ganglia revealed a decrease in N-acetylaspartate and myo-inositol peaks and an elevation of glutamine/ glutamate. The presence of spectroscopic abnormalities in a stable metabolic condition, in particular the rise in glutamine/ glutamate, indicates that the metabolic balance on cerebral parenchymal level is less optimal than estimated from biochemical analysis of urine, plasma, or cerebrospinal fluid.
对三名丙酸血症患者进行了研究。第一名患者在9个月大时被诊断出患有该病，此前他在上呼吸道感染后出现肌张力减退和舞蹈手足徐动症，3个月后确诊。第二名患者在1.5个月大时被诊断出患有该病，当时她因发育不良在鼻胃管喂养后昏迷。第三名患者在5天时被诊断出患有该病，当时她出现喂养困难、肌张力减退和呼吸功能不全。所有患者的脑部磁共振成像（MRI）均显示髓鞘形成延迟和一些脑萎缩。在患有舞蹈手足徐动症的患者中，MRI显示壳核和尾状核的信号强度双侧异常。另外两名患者的MRI显示基底神经节正常。来自位于基底神经节的体素的质子磁共振波谱（1H MRS）显示N-乙酰天门冬氨酸和肌醇峰降低，谷氨酰胺/谷氨酸升高。在稳定的代谢状态下存在波谱异常，特别是谷氨酰胺/谷氨酸升高，表明脑实质水平的代谢平衡不如从尿液、血浆或脑脊液的生化分析估计的那样理想。
