Kohlschütter A, Behbehani A, Langenbeck U, Albani M, Heidemann P, Hoffmann G, Kleineke J, Lehnert W, Wendel U
Eur J Pediatr. 1982 Feb;138(1):32-7. doi: 10.1007/BF00442325.
A boy and a girl born to a consanguineous Tunisian couple are suffering from a slowly progressive nervous disorder. Initially they both had normal psychomotor development with acquisition of gait and speech. First symptoms in the boy were athetoid movements during the second year of life. He later lost all motor and language skills and developed muscular rigidity and intention tremor. At the age of five years, he was completely bedridden while he appeared mentally much less affected. His younger sister followed a similar course. The major specific abnormality detected was a strikingly elevated excretion of 2-oxoglutaric acid, which was identified by gas liquid chromatography, mass spectrometry, and enzymatic analysis. 2-oxoglutarate dehydrogenase activity in homogenates of cultured skin fibroblasts was reduced to about 25% of control values in both children. Although the pathogenetic mechanisms leading to brain damage remain obscure, the finding strongly suggest an autosomal recessive neurometabolic disease with predominant involvement of the extrapyramidal system.
一对有血缘关系的突尼斯夫妇所生的一个男孩和一个女孩患有一种进展缓慢的神经疾病。起初，他们的精神运动发育都正常，学会了走路和说话。男孩的最初症状是在两岁时出现手足徐动症。后来，他失去了所有的运动和语言能力，出现了肌肉僵硬和意向性震颤。五岁时，他完全卧床不起，而他的智力似乎受影响较小。他的妹妹也有类似的病程。检测到的主要特异性异常是2-氧代戊二酸排泄显著升高，这是通过气液色谱法、质谱分析法和酶分析法确定的。两个孩子培养的皮肤成纤维细胞匀浆中的2-氧代戊二酸脱氢酶活性降至对照值的约25%。尽管导致脑损伤的发病机制仍不清楚，但这一发现强烈提示这是一种常染色体隐性神经代谢疾病，主要累及锥体外系。
