Abstract
In vivo phosphorus magnetic resonance spectroscopy (MRS) was used to investigate markers
of the cerebral energy status in two patients with glutaric aciduria type I (GA-I).
Besides an increased concentration of phosphomonoesters in one patient, no other significant
alterations from controls were found. This might indicate increased resynthesis of
dendritic processes secondary to preceding metabolic crises. In contrast to previous
cell-culture studies, no cerebral depletion of phosphocreatine (PCr) was observed.
In conclusion, a severe global and permanent depletion of cerebral energy supplies
must be ruled out. The benefit of a permanent creatine substitution to stabilize mitochondrial
energy metabolism seems thus questionable. However, as MRS was performed during stable
clinical conditions, the possibility of a PCr decrease during acute metabolic crises
cannot be assessed.
Key words
Energy metabolism - glutaric aciduria type I - glutaryl-CoA dehydrogenase deficiency
- magnetic resonance spectroscopy
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Ph.D. Harald E. Möller
Max Planck Institute of Cognitive Neuroscience
Stephanstraße 1 a
04103 Leipzig
Germany
eMail: moeller@cns.mpg.de