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NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism
Author(s) -
Engelke Udo F. H.,
Sass Jörn Oliver,
Van Coster Rudy N.,
Gerlo Erik,
Olbrich Heike,
Krywawych Stefan,
Calvin Jacqui,
Hart Claire,
Omran Heymut,
Wevers Ron A.
Publication year - 2008
Publication title -
nmr in biomedicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.278
H-Index - 114
eISSN - 1099-1492
pISSN - 0952-3480
DOI - 10.1002/nbm.1170
Subject(s) - inborn error of metabolism , metabolite , urine , metabolism , acetylation , creatinine , chemistry , cerebrospinal fluid , amino acid , biochemistry , urinary system , medicine , endocrinology , biology , gene
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 µmol/mmol creatinine. Two additional minor N‐acetylated metabolites remain unidentified. The concentrations of the accumulating metabolites are <20 µmol/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. Copyright © 2007 John Wiley & Sons, Ltd.