The authors describe an Italian child with guanidinoacetate methyltransferase deficiency, neurologic regression, movement disorders, and epilepsy during the first year of life. Brain MRI showed pallidal and periaqueductal alterations. In vivo H-1-MRS showed brain creatine depletion. The assessment of guanidinoacetic acid concentration in biologic fluids confirmed the diagnosis. Clinical, biochemical, and neuroradiologic improvement followed creatine supplementation.

Brain creatine depletion: Guanidinoacetate methyltransferase deficiency (improving with creatine supplementation) / Leuzzi, Vincenzo; Bianchi, M. C.; Tosetti, M.; Carducci, Claudia; Cerquiglini, Antonella; Cioni, G.; Antonozzi, Italo. - In: NEUROLOGY. - ISSN 0028-3878. - STAMPA. - 9:55(2000), pp. 1407-1409.

Brain creatine depletion: Guanidinoacetate methyltransferase deficiency (improving with creatine supplementation)

LEUZZI, Vincenzo;CARDUCCI, Claudia;CERQUIGLINI, Antonella;ANTONOZZI, Italo
2000

Abstract

The authors describe an Italian child with guanidinoacetate methyltransferase deficiency, neurologic regression, movement disorders, and epilepsy during the first year of life. Brain MRI showed pallidal and periaqueductal alterations. In vivo H-1-MRS showed brain creatine depletion. The assessment of guanidinoacetic acid concentration in biologic fluids confirmed the diagnosis. Clinical, biochemical, and neuroradiologic improvement followed creatine supplementation.
2000
Childhood; metabolic desease; brain creatine depletion; therapy
01 Pubblicazione su rivista::01a Articolo in rivista
Brain creatine depletion: Guanidinoacetate methyltransferase deficiency (improving with creatine supplementation) / Leuzzi, Vincenzo; Bianchi, M. C.; Tosetti, M.; Carducci, Claudia; Cerquiglini, Antonella; Cioni, G.; Antonozzi, Italo. - In: NEUROLOGY. - ISSN 0028-3878. - STAMPA. - 9:55(2000), pp. 1407-1409.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/254395
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