Irreversible brain creatine deficiency with elevated serum and urine creatine: A creatine transporter defect?

• Published in: Annals of neurology Vol. 49; no. 3; pp. 401 - 404
• Main Authors: Cecil, Kim M., Salomons, Gajja S., Ball Jr, William S., Wong, Brenda, Chuck, Gail, Verhoeven, Nanda M., Jakobs, Cornelis, DeGrauw, Ton J.
• Format: Journal Article
• Language: English
• Published: New York John Wiley & Sons, Inc 01.03.2001; Willey-Liss
• Subjects: Biological and medical sciences; Brain - metabolism; Child; Creatine - deficiency; Humans; Magnetic Resonance Spectroscopy; Male; Medical sciences; Metabolism, Inborn Errors - blood; Metabolism, Inborn Errors - urine; Nervous system involvement in other diseases. Miscellaneous; Neurology; Case study; Human; Nervous system diseases; Deficiency; Biological transport; Central nervous system disease; NMR spectrometry; Acetic acid; Creatine; Irreversible; Nuclear magnetic resonance imaging; Cerebral disorder
• ISSN: 0364-5134; 1531-8249
• DOI: 10.1002/ana.79

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