Transport and metabolism of sarcosine in hypersarcosinemic and normal phenotypes

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Abstract

An adolescent male proband with hypersarcosinemia was discovered incidentally in a French-Canadian family; no specific disease was associated with the trait. The hypersarcosinemia is not diminished by dietary folic acid even in pharmacologic doses (30 mg/day). The normal absence of sarcosine dehydrogenase in cultured human skin fibroblasts and in leukocytes was confirmed, thus eliminating these tissues as useful sources for further investigation of mutant sarcosinemic phenotypes and genotypes.

Authors

Francis H. Glorieux, Charles R. Scriver, Edgard Delvin, Fazl Mohyuddin