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

  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},
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


Transport and metabolism of sarcosine in hypersarcosinemic and normal phenotypes.
The phenotypic responses suggest that hypersarcosinemia is an autosomal recessive trait in this pedigree, and studies in vitro in rat kidney showed that sarcosine transport is mediated, saturable, and energy dependent. Expand
Clinical and cellular studies of sarcosinemia.
A child with sarcosinemia was studied in vivo by oral loading tests and in vitro by skin fibroblast cultures and short-term leukocyte incubations. The loading studies indicated a decreased capacityExpand
Labile methyl group balances in the human: the role of sarcosine.
New data on methionine consumption due to sarcosine formation permit calculation of a turnover time for S-adenosylmethionine in human liver (no more than 3.5–7 min), as well as upward revision of previous minimal estimates of the rate of methylneogenesis, the number of times that the average homocysteinyl moiety cycles between methionsine and homocysteine during its passage through the body. Expand
Hypersarcosinemia. A newly described inborn error of metabolism.
In discussing treatment of amino-acid disorders, one might very well ask if there is any value in decreasing the amounts of an abnormal substance in the urine or in the blood of a patient with a specific disease. Expand
Multiple Acyl-CoA Dehydrogenase Deficiency (Glutaric Aciduria Type II) with Transient Hypersarcosinemia and Sarcosinuria; Possible Inherited Deficiency of an Electron Transfer Flavoprotein
The authors conclude that this disorder is not due to generalized deficiency of glutaryl-CoA dehydrogenase or to a defect in FAD synthesis, and that the presence of hypersarcosinemia and/or sarcosinuria may delineate a subtype due to deficiency of an electron carrier flavoprotein. Expand
Nonketotic Hyperglycinemia: An in vitro Study of the Glycine-serine Conversion in Liver of Three Patients and the Effect of Dietary Methionine
Evidence is yielded that the nonketotic form of hyperglycinemia is due to absence or nonfunction of the enzymic system responsible for the conversion of glycine to CO2, NH3, and hydroxymethyltetrahydrofolic acid. Expand
Competing methyltransferase systems.
  • S. Kerr
  • Medicine, Biology
  • The Journal of biological chemistry
  • 1972
Abstract Large differences between the transfer RNA methyl-transferase capacity of adult organs and their fetal counterparts, as well as between tumor tissues and normal tissues, have been observed.Expand
Purification and characterization of glycine N-methyltransferase.
Abstract Glycine N-methyltransferase, an enzyme which methylates glycine in the N-position to yield sarcosine, has been purified to homogeneity from rabbit liver and partially characterized. TheExpand
Hypersarcosinemia with craniostenosis-syndactylism syndrome
After a sarcosine loading the sarcOSine-glycine ratios seem to be a more reliable criterion to distinguish different genotypes than the sarcosinesine tolerance curves. Expand
A modified procedure for the automatic analysis of amino acids.
The procedure described allows the complete analysis of a protein hydrolyzate, including collagen, in 24 hr using a single sample, and is also suitable for many other biological amino acid mixtures. Expand