Moser H W, Mihalik S J, Watkins P A
John F. Kennedy Institute, Johns Hopkins University, Baltimore, MD 21205.
Brain Dev. 1989;11(2):80-90. doi: 10.1016/s0387-7604(89)80074-9.
Impaired nervous system function in childhood is encountered in 10 separate disorders of the peroxisome. Peroxisomal disorders are subdivided into three major groups. In group 1 there is failure to form the organelle and impairment of multiple peroxisomal functions. In group 3 peroxisome structure is intact and the defect involves a single enzyme. In group 2 (rhizomelic chondrodysplasia punctata) peroxisome structure is probably intact, but at least 2 peroxisomal enzymes fail to function normally. We present an overview of this newly recognized field which is so pertinent to brain development. In addition, we present recent and new data about the biochemical defect, genetics and therapy of X-linked adrenoleukodystrophy; about the normal metabolism of L-pipecolic acid in primates and its disturbance in the Zellweger syndrome, and about the prenatal diagnosis of peroxisomal disorders.
儿童期神经系统功能受损见于10种不同的过氧化物酶体疾病。过氧化物酶体疾病可细分为三大类。第1组中细胞器无法形成，多种过氧化物酶体功能受损。第3组中过氧化物酶体结构完整，缺陷涉及单一酶。在第2组（肢根型点状软骨发育不良）中，过氧化物酶体结构可能完整，但至少有2种过氧化物酶体酶不能正常发挥功能。我们对这个新认识的、与脑发育密切相关的领域进行了概述。此外，我们还介绍了关于X连锁肾上腺脑白质营养不良的生化缺陷、遗传学和治疗的最新及新数据；关于灵长类动物中L-哌可酸的正常代谢及其在泽尔韦格综合征中的紊乱，以及关于过氧化物酶体疾病的产前诊断。
