Variability in the phenotypic expression of abnormal sarcosine metabolism in a family

@article{Kang2004VariabilityIT,
  title={Variability in the phenotypic expression of abnormal sarcosine metabolism in a family},
  author={E. Kang and J. Seyer and T. A. Todd and C. Herrera},
  journal={Human Genetics},
  year={2004},
  volume={64},
  pages={80-85}
}
SummaryA retarded child with hypersarcosinemia and his family were studied by loading tests to determine the probable site of his defect. On the basis of his response to folate treatment, a partially-reversible defect in the formation of activated formaldehyde in the reaction catalyzed by sarcosine dehydrogenase was considered to be the most likely site. During a glycine loading test, sarcosine levels in the plasma and urine increased, indicating that the direct transmethylation of glycine to… Expand

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