Literature DB >> 759039

Folic acid dependent hypersarcosinaemia.

W Blom, J Fernandes.   

Abstract

Hypersarcosinaemia is a rare inborn error of metabolism, caused by a deficiency of the sarcosine dehydrogenase complex with tetrahydrofolate as a formaldehyde acceptor needed for the sarcosine-glycine conversion. Prolonged therapy with folic acid on a hypersarcosinaemic patient resulted in a significant effect on the urinary excretion of sarcosine, leading to the conclusion that the patient has a folic acid dependent hypersarcosinaemia.

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Year:  1979        PMID: 759039     DOI: 10.1016/0009-8981(79)90445-5

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN: 0009-8981            Impact factor:   3.786


  5 in total

1.  A patient with sarcosinaemia.

Authors:  F J van Sprang; M Duran; H G Scholten; S K Wadman
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

2.  Differential diagnosis of (inherited) amino acid metabolism or transport disorders.

Authors:  W Blom; J G Huijmans
Journal:  Amino Acids       Date:  1992-02       Impact factor: 3.520

3.  Sarcosinaemia in a retarded, amaurotic child.

Authors:  A C Sewell; M Krille; I Wilhelm
Journal:  Eur J Pediatr       Date:  1986-02       Impact factor: 3.183

4.  Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia.

Authors:  Ifat Bar-joseph; Elon Pras; Haike Reznik-Wolf; Dina Marek-Yagel; Almogit Abu-Horvitz; Maya Dushnitzky; Nurit Goldstein; Shlomit Rienstein; Michal Dekel; Ben Pode-Shakked; Joseph Zlotnik; Anelia Benarrosh; Philippe Gillery; Niklaus Hofliger; Christiane Auray-Blais; Roselyne Garnotel; Yair Anikster
Journal:  Hum Genet       Date:  2012-07-24       Impact factor: 4.132

5.  sar: a genetic mouse model for human sarcosinemia generated by ethylnitrosourea mutagenesis.

Authors:  C O Harding; P Williams; D M Pflanzer; R E Colwell; P W Lyne; J A Wolff
Journal:  Proc Natl Acad Sci U S A       Date:  1992-04-01       Impact factor: 11.205

  5 in total

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