| NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism. | |
| | |
MedLine Citation:
|
PMID: 17516490 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
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. |
| | |
Authors:
|
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 |
Publication Detail:
|
Type: Journal Article |
Journal Detail:
|
Title: NMR in biomedicine Volume: 21 ISSN: 0952-3480 ISO Abbreviation: NMR Biomed Publication Date: 2008 Feb |
Date Detail:
|
Created Date: 2008-02-13 Completed Date: 2008-06-24 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 8915233 Medline TA: NMR Biomed Country: England |
Other Details:
|
Languages: eng Pagination: 138-47 Citation Subset: IM |
Affiliation:
|
Radboud University Nijmegen Medical Center, Laboratory of Pediatrics and Neurology, Nijmegen, The Netherlands. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Acetylation Adolescent Amidohydrolases / deficiency* Amino Acid Metabolism, Inborn Errors / enzymology*, physiopathology* Amino Acids / blood, cerebrospinal fluid, urine Child, Preschool Humans Infant Infant, Newborn Magnetic Resonance Spectroscopy* Male |
| Chemical | |
Reg. No./Substance:
|
0/Amino Acids; EC 3.5.-/Amidohydrolases; EC 3.5.1.14/aminoacylase I |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: The suitability of patient-based measures in the field of Parkinson's disease: a systematic review.
Next Document: Fast screening of paramagnetic molecules in zebrafish embryos by MRI.