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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
