Scriver C R
J Inherit Metab Dis. 1985;8 Suppl 1:2-7. doi: 10.1007/BF01800651.
Access to vitamins and the genetic endownment to utilize them maintain vitamin-dependent metabolic homeostasis in heterotrophs. Whereas the extent of adverse nutritional experiences has declined in modern human societies, phenocopies of deficiency diseases persist; accordingly, they have high heritability. The "vitamin-responsive hereditary metabolic diseases" identify DNA that specifies conserved apoenzyme domains interacting with coenzyme and the cellular processes providing access to coenzymes. Could heterozygosity at those loci also be a determinant of disease (or health) under certain circumstances?
获取维生素以及利用它们的遗传天赋维持了异养生物中依赖维生素的代谢稳态。尽管在现代人类社会中不良营养经历的程度有所下降，但营养缺乏疾病的表型模拟仍然存在；因此，它们具有很高的遗传度。“维生素反应性遗传性代谢疾病”确定了指定与辅酶相互作用的保守脱辅基酶结构域的DNA以及提供获取辅酶途径的细胞过程。在某些情况下，这些位点的杂合性是否也可能是疾病（或健康）的决定因素呢？
