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Publication year
2010Source
NMR in Biomedicine, 23, 5, (2010), pp. 441-5ISSN
Annotation
01 juni 2010
Publication type
Article / Letter to editor
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Organization
Internal Medicine
Paediatrics - OUD tm 2017
Radiology
Human Genetics
Laboratory of Genetic, Endocrine and Metabolic Diseases
Neurology
Journal title
NMR in Biomedicine
Volume
vol. 23
Issue
iss. 5
Page start
p. 441
Page end
p. 5
Subject
DCN 2: Functional Neurogenomics; DCN 3: Neuroinformatics; IGMD 1: Functional imaging; IGMD 3: Genomic disorders and inherited multi-system disorders; NCMLS 4: Energy and redox metabolism; Laboratory Medicine - Radboud University Medical Center; Medical Imaging - Radboud University Medical CenterAbstract
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.
This item appears in the following Collection(s)
- Academic publications [245050]
- Electronic publications [132309]
- Faculty of Medical Sciences [93209]
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