Abstract #2127

In Vivo Proton MR Spectroscopy Findings Specific for Adenylosuccinate Lyase Deficiency

Steffi Dreha-Kulaczewski¹, Marco Henneke¹, Knut Brockmann¹, Marinette van der Graaf^2,3, Michel Willemsen⁴, Udo Engelke⁵, Peter Dechent⁶, Arend Heerschap³, Gunther Helms⁶, Ron Wevers⁵, Jutta Gaertner¹

¹Department of Pediatrics and Pediatric Neurology, Georg August University, Goettingen, Germany; ²Clinical Physics Laboratory in the Department of Pediatrics, Radboud University Nijmegen Medical Center, Nijmegen, Netherlands; ³Department of Radiology, Radboud University Nijmegen Medical Center, Nijmegen, Netherlands; ⁴Department of Pediatric Neurology, Radboud University Nijmegen Medical Center, Nijmegen, Netherlands; ⁵Laboratory of Genetic, Endocrine and Metabolic Diseases, Department of Laboratory Medicine, Radboud University Nijmegen Medical Center, Nijmegen, Netherlands; ⁶MR-Research in Neurology and Psychiatry, Georg August University, Goettingen, Germany

Adenylosuccinate lyase (ADSL) deficiency is an inherited metabolic disorder and characterized by the accumulation of succinylaminoimidazolecarboxamide riboside and succinyladenosine (S-Ado) in tissue and body fluids. In three children, presenting with psychomotor delay, autistic features, and white matter changes on brain MRI, screening for inborn errors of metabolism included in vitro proton MRS. It revealed resonances at 8.27 and 8.29ppm that correspond to S-Ado. In vivo proton MRS showed a signal at 8.3ppm in gray and white matter brain regions of all three patients, which was undetectable in controls. In vivo proton MRS provides a conclusive finding in ADSL deficiency.