Irreversible brain creatine deficiency with elevated serum and urine creatine: A creatine transporter defect?
Article first published online: 1 MAR 2001
Copyright © 2001 Wiley-Liss, Inc.
Annals of Neurology
Volume 49, Issue 3, pages 401–404, 1 March 2001
How to Cite
Cecil, K. M., Salomons, G. S., Ball, W. S., Wong, B., Chuck, G., Verhoeven, N. M., Jakobs, C. and DeGrauw, T. J. (2001), Irreversible brain creatine deficiency with elevated serum and urine creatine: A creatine transporter defect?. Ann Neurol., 49: 401–404. doi: 10.1002/ana.79
- Issue published online: 1 MAR 2001
- Article first published online: 1 MAR 2001
- Manuscript Accepted: 6 NOV 2000
- Manuscript Revised: 3 NOV 2000
- Manuscript Received: 17 JUL 2000
Recent reports highlight the utility of in vivo magnetic resonance spectroscopy (MRS) techniques to recognize creatine deficiency syndromes affecting the central nervous system (CNS). Reported cases demonstrate partial reversibility of neurologic symptoms upon restoration of CNS creatine levels with the administration of oral creatine. We describe a patient with a brain creatine deficiency syndrome detected by proton MRS that differs from published reports. Metabolic screening revealed elevated creatine in the serum and urine, with normal levels of guanidino acetic acid. Unlike the case with other reported creatine deficiency syndromes, treatment with oral creatine monohydrate demonstrated no observable increase in brain creatine with proton MRS and no improvement in clinical symptoms. In this study, we report a novel brain creatine deficiency syndrome most likely representing a creatine transporter defect. Ann Neurol 2001;49:401–404