Marinette van der Graaf1,2, Udo F.H. Engelke3,
Eva Morava4, Mirian C.H. Janssen5, Maaike C. de Vries4,
Leo AJ Kluijtmans3, Bozena Goraj1, Arend Heerschap1,
Ron A. Wevers3
1Radiology, Radboud University Nijmegen
Medical Centre, Nijmegen, Netherlands; 2Clinical Physics
Laboratory, Radboud University Nijmegen Medical Centre, Nijmegen,
Netherlands; 3Laboratory of Genetic, Endocrine and Metabolic
Diseases, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands; 4Pediatrics,
Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands; 5General
Internal Medicine, Radboud University Nijmegen Medical Centre, Nijmegen,
Netherlands
Recently,
our group showed for the first time cerebral accumulation of
3-hydroxyisovaleric acid (3HIVA) in a pediatric patient with
3-Methylcrotonyl-CoA Carboxylase deficiency (MCCD). 3HIVA has been considered
to have neurotoxic effects, but this is under debate. The present study
reports on cerebral accumulation of 3HIVA detected by 3T proton MRS in two
adult women with MCCD, whom deficiency was
discovered by a positive neonatal screening of their healthy new-born
babies. As the women had not been
aware of having this disorder before and they have no or limited
complaints, 3HIVA is postulated to have no or minor neurotoxic effect.
Keywords