Marinette van der Graaf1,2, Udo F.H. Engelke3, Eva Morava4, Maaike C. de Vries4, Leo A.J. Kluijtmans3, Bozena Graj1, Ron A. Wevers3, Arend Heerschap1
1Radiology, Radboud University Nijmegen Medical Center, Nijmegen, Netherlands; 2Clinical Physics Laboratory, Radboud University Nijmegen Medical Center, Nijmegen, Netherlands; 3Laboratory of Pediatrics and Neurology, Radboud University Nijmegen Medical Center, Nijmegen, Netherlands; 4Pediatrics, Radboud University Nijmegen Medical Center, Nijmegen, Netherlands
Newborn screening for 3-methylcrotonyl-CoA-carboxylase deficiency (MCCD) is under debate in literature as only a few individuals suffering from MCCD develop symptoms. In the present study, however, proton MRS at 3T shows accumulation of 3-hydroxyisovaleric acid (3-HIVA) in the brain of a patient with MCCD at 5 and 21 months of age. Since 3-HIVA is considered to be neurotoxic, early detection is relevant as diet adjustments can be made to minimize its accumulation, which justifies newborn screening for MCCD.