Abstract:
: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.
journal_name
NMR Biomedjournal_title
NMR in biomedicineauthors
Engelke UF,Sass JO,Van Coster RN,Gerlo E,Olbrich H,Krywawych S,Calvin J,Hart C,Omran H,Wevers RAdoi
10.1002/nbm.1170subject
Has Abstractpub_date
2008-02-01 00:00:00pages
138-47issue
2eissn
0952-3480issn
1099-1492journal_volume
21pub_type
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