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In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiency
Author(s) -
Henneke M.,
DrehaKulaczewski S.,
Brockmann K.,
van der Graaf M.,
Willemsen M. A. A. P.,
Engelke U.,
Dechent P.,
Heerschap A.,
Helms G.,
Wevers R. A.,
Gärtner J.
Publication year - 2010
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.1480
Subject(s) - in vivo , white matter , psychomotor retardation , hypotonia , endocrinology , medicine , chemistry , nuclear magnetic resonance , biology , pathology , magnetic resonance imaging , genetics , physics , alternative medicine , radiology
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. Copyright © 2010 John Wiley & Sons, Ltd.