Development of myelin in inherited disorders of amino acid metabolism.
Development of myelin in inherited disorders of amino acid metabolism.
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氨基酸代谢遗传性疾病中髓磷脂的发育。
DOI：
10.1001/archneur.1968.00480060022002
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发表时间：
1968
影响因子：
--
通讯作者：
H. Moser
中科院分区：
文献类型：
--
作者：
A. Prensky;S. Carr;H. Moser
1950年，Alvord等人首次提出苯丙酮尿症(PKU)的主要神经病理特征是髓鞘发育迟缓。随后，其他研究人员描述了中央白质部分的苍白区域，髓鞘染色和长束髓鞘形成迟缓。枫糖尿病(MSUD)有2例、3例出现类似异常。4-6对这些疾病患者脑白质的生化研究也表明，髓鞘的积累速度比在正常大脑中发现的要慢。PKU组和MSUD组大鼠脑白质含水量增加，脂质含量降低。7-10脑苷脂的降幅超过其他类脂的降幅，9-11是意料之中的，因为这种类脂的积累与正常髓鞘的形成最接近。12虽然这种类型的生化研究证实了先前的组织学观察，
IN 1950, Alvord et al 1 first suggested that the principal neuropathological feature of phenylketonuria (PKU) was a delay in the development of myelin. Subsequently, other investigators described areas of pallor in sections of central white matter stained for myelin and retarded myelination of the long tracts. 2,3 Similar abnormalities were found in maple syrup urine disease (MSUD). 4-6 Biochemical investigations of the cerebral white matter of patients with these diseases have also indicated that myelin was accumulating at a slower rate than that found in normal brains. In both PKU and MSUD, the water content of cerebral white matter was increased and the lipid content reduced. 7-10 The reduction of cerebrosides exceeded that of other lipid classes, 9-11 which is to be expected, since the accumulation of this lipid most closely parallels the formation of normal myelin. 12 While biochemical studies of this type confirmed prior histological observations,