| In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiency. | |
| | |
MedLine Citation:
|
PMID: 20175147 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Adenylosuccinate lyase (ADSL) deficiency is an inherited metabolic disorder affecting predominantly the central nervous system. The disease is characterized by the accumulation of succinylaminoimidazolecarboxamide riboside and succinyladenosine (S-Ado) in tissue and body fluids. Three children presented with muscular hypotonia, psychomotor delay, behavioral abnormalities, and white matter changes on brain MRI. Two of them were affected by seizures. Screening for inborn errors of metabolism including in vitro high resolution proton MRS revealed an ADSL deficiency that was confirmed genetically in all cases. All patients were studied by in vivo proton MRS. In vitro high resolution proton MRS of patient cerebrospinal fluid showed singlet resonances at 8.27 and 8.29 ppm that correspond to accumulated S-Ado. In vivo proton MRS measurements also revealed a prominent signal at 8.3 ppm in gray and white matter brain regions of all patients. The resonance was undetectable in healthy human brain. In vivo proton MRS provides a conclusive finding in ADSL deficiency and represents a reliable noninvasive diagnostic tool for this neurometabolic disorder. |
| | |
Authors:
|
M Henneke; S Dreha-Kulaczewski; K Brockmann; M van der Graaf; M A A P Willemsen; U Engelke; P Dechent; A Heerschap; G Helms; R A Wevers; J Gärtner |
Related Documents
:
|
11108627 - Noninvasive assessment of cardiac ischemic injury using (87)rb and (23)na mr imaging, (... 9367317 - Accuracy of single-voxel proton mr spectroscopy in distinguishing neoplastic from nonne... 12372747 - (31)phosphorous and single voxel proton mr spectroscopy and diffusion-weighted imaging ... 8065847 - In vivo proton magnetic resonance spectroscopy of the brain in a patient with l-2-hydro... 20970987 - Proton range uncertainty due to bone cement injected into the vertebra in radiation the... 16490947 - Acute-stage evolution of watershed infarction assessed on diffusion-weighted mr imaging. |
Publication Detail:
|
Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
|
Title: NMR in biomedicine Volume: 23 ISSN: 1099-1492 ISO Abbreviation: NMR Biomed Publication Date: 2010 Jun |
Date Detail:
|
Created Date: 2010-06-21 Completed Date: 2010-09-15 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 8915233 Medline TA: NMR Biomed Country: England |
Other Details:
|
Languages: eng Pagination: 441-5 Citation Subset: IM |
Affiliation:
|
Department of Pediatrics and Pediatric Neurology, Georg August University, Göttingen, Germany. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Adenylosuccinate Lyase
/
deficiency* Aminoimidazole Carboxamide / analogs & derivatives, cerebrospinal fluid, urine Child Child, Preschool Female Humans Hydrogen-Ion Concentration Infant Infant, Newborn Magnetic Resonance Imaging Magnetic Resonance Spectroscopy Male Protons / diagnostic use* Purine-Pyrimidine Metabolism, Inborn Errors / cerebrospinal fluid, diagnosis*, enzymology*, urine Ribonucleotides / cerebrospinal fluid, urine S-Adenosylmethionine / cerebrospinal fluid, urine |
| Chemical | |
Reg. No./Substance:
|
0/Protons; 0/Ribonucleotides; 29908-03-0/S-Adenosylmethionine; 3031-95-6/SAICAR; 360-97-4/Aminoimidazole Carboxamide; EC 4.3.2.2/Adenylosuccinate Lyase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Only fat infiltrated muscles in resting lower leg of FSHD patients show disturbed energy metabolism.
Next Document: The effects of clinically used MRI contrast agents on the biological properties of human mesenchymal...