Literature DB >> 2387074

O-phosphohydroxylysinuria: a new inborn error of metabolism?

L Dorland1, M Duran, P K de Bree, G R Smith, A Horvath, A S Tibosch, S K Wadman.   

Abstract

An abnormal ninhydrin positive compound was observed in the urine of two unrelated patients with neurological abnormalities. The compound was isolated by cation exchange followed by preparative paper chromatography and finally purified via cation exchange column chromatography. Its identification as O-phosphohydroxylysine resulted from FAB mass spectrometry and NMR spectroscopy. Chemical synthesis confirmed the structure. It was tentatively postulated that these patients had a defect of the metabolism of hydroxylysine, viz., a deficiency of the enzyme O-phosphohydroxylysine phospholyase.

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Year:  1990        PMID： 2387074     DOI： 10.1016/0009-8981(90)90203-5

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


  3 in total

1.  Molecular identification of hydroxylysine kinase and of ammoniophospholyases acting on 5-phosphohydroxy-L-lysine and phosphoethanolamine.

Authors:  Maria Veiga-da-Cunha; Farah Hadi; Thomas Balligand; Vincent Stroobant; Emile Van Schaftingen
Journal:  J Biol Chem       Date:  2012-01-12       Impact factor: 5.157

2.  Selective screening for amino acid disorders.

Authors:  M Duran; L Dorland; P K de Bree; R Berger
Journal:  Eur J Pediatr       Date:  1994       Impact factor: 3.183

3.  Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria.

Authors:  Maria Veiga-da-Cunha; Nanda M Verhoeven-Duif; Tom J de Koning; Marinus Duran; Bert Dorland; Emile Van Schaftingen
Journal:  J Inherit Metab Dis       Date:  2012-12-14       Impact factor: 4.982
  3 in total

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