Irreversible brain creatine deficiency with elevated serum and urine creatine: A creatine transporter defect?
| Autor: | Nanda M. Verhoeven, Gail Chuck, Kim M. Cecil, Ton J. deGrauw, William S. Ball, Cornelis Jakobs, Brenda Wong, Gajja S. Salomons |
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| Rok vydání: | 2001 |
| Předmět: |
Male
In vivo magnetic resonance spectroscopy medicine.medical_specialty Magnetic Resonance Spectroscopy Creatine transport Creatine Creatine transporter defect Central nervous system disease chemistry.chemical_compound Internal medicine medicine Humans Child biology business.industry Brain medicine.disease Guanidinoacetate N-methyltransferase Endocrinology Neurology chemistry biology.protein Creatine kinase Neurology (clinical) Creatine Monohydrate business Metabolism Inborn Errors |
| Zdroj: | Annals of Neurology. 49:401-404 |
| ISSN: | 1531-8249 0364-5134 |
| DOI: | 10.1002/ana.79 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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