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NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism

  • Aminoacylase 1 deficiency is a novel inborn error of metabolism. The clinical significance of the deficiency is under discussion, as well as the possible consequences of the defect for brain metabolism and function. This study includes the five originally published cases as well as three novel ones. NMR spectroscopy of urine, serum and cerebrospinal fluid has been used to study these patients. A typical profile with 11 accumulating N-acetylated amino acids was observed in urine from the patients. The concentration of most of the accumulating metabolites is typically 100-500 micromol/mmol creatinine. Two additional minor N-acetylated metabolites remain unidentified. The concentrations of the accumulating metabolites are <20 micromol/L in serum from the patients. Interestingly we found no evidence of an increased concentration of N-acetylated amino acids in the cerebrospinal fluid from one patient. Our data define aminoacylase 1 deficiency at the metabolite level providing a specific urinary profile of accumulating N-acetylated amino acids.

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Metadaten
Document Type:Article
Language:English
Author:Udo F. H. Engelke, Jörn Oliver Sass, Rudy N. van Coster, Erik Gerlo, Heike Olbrich, Stefan Krywawych, Jacqui Calvin, Claire Hart, Heymut Omran, Ron A. Wevers
Parent Title (English):NMR Biomed. (NMR in Biomedicine)
Volume:21
Issue:2
First Page:138
Last Page:147
ISSN:0952-3480
DOI:https://doi.org/10.1002/nbm.1170
Pubmed Id:http://www.ncbi.nlm.nih.gov/pubmed?term=17516490
Publisher:Wiley
Publication year:2008
Departments, institutes and facilities:Institut für funktionale Gen-Analytik (IfGA)
Entry in this database:2018/08/18