Surtees R
Institute of Child Health, London, UK.
J Inherit Metab Dis. 1993;16(4):762-70. doi: 10.1007/BF00711908.
In humans, subacute combined degeneration of the spinal cord and brain, a primary demyelinating disease, is caused by cobalamin or methyltetrahydrofolate deficiency. Experimental studies into its pathogenesis suggest that dysfunction of the methyl-transfer pathway may be the cause. Compelling evidence for this comes from the study of inborn errors of cobalamin metabolism where deficiency of methylcobalamin, but not deoxyadenosylcobalamin, is associated with demyelination. Recent studies have focused upon inborn errors of the methyl-transfer pathway. Cerebrospinal fluid concentrations of metabolites of the methyl-transfer pathway have been measured in humans with sequential errors of the pathway and correlated with demyelination demonstrated on magnetic resonance imaging of the brain. This has provided new data suggesting that deficiency of S-adenosylmethionine is critical to the development of demyelination in cobalamin deficiency.
在人类中，脊髓和脑的亚急性联合变性是一种原发性脱髓鞘疾病，由钴胺素或甲基四氢叶酸缺乏引起。对其发病机制的实验研究表明，甲基转移途径功能障碍可能是病因。这方面的有力证据来自对钴胺素代谢先天性缺陷的研究，其中甲基钴胺素缺乏而非脱氧腺苷钴胺素缺乏与脱髓鞘有关。最近的研究集中在甲基转移途径的先天性缺陷上。已对甲基转移途径存在连续性缺陷的人类测量了脑脊液中该途径代谢物的浓度，并将其与脑部磁共振成像显示的脱髓鞘情况相关联。这提供了新的数据，表明S-腺苷甲硫氨酸缺乏对钴胺素缺乏时脱髓鞘的发展至关重要。
