Abstract
Several studies have provided evidence that inborn errors in the metabolism of some of the amino acids may result in a decrease in central nervous system myelin. Examples are phenylketonuria (McKusick 26160), maple syrup urine disease (McKusick 24860; for reviews see Gaull et al., 1975; Hommes, 1984), ornithine transcarbamylase deficiency (McKusick 31125; see Harding et al., 1984) and non-ketotic hyperglycinaemia (McKusick 23830; see Shurman et al., 1978). In addition to this common feature, each of these diseases presents with its own specific clinical symptoms, many of which are acute effects caused by the specific toxicity of the compounds accumulating.
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Hommes, F.A. (1985). Amino Acidaemias and Brain Maturation: Interference with Sulphate Activation and Myelin Metabolism. In: Addison, G.M., Bartlett, K., Harkness, R.A., Pollitt, R.J. (eds) Inherited Disorders of Vitamins and Cofactors. Springer, Dordrecht. https://doi.org/10.1007/978-94-011-8019-1_32
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DOI: https://doi.org/10.1007/978-94-011-8019-1_32
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