Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyHumansMaleCerebellar AtaxiaPhenotypeBrain Diseases
Mild and late onset forms of type I 3-methylglutaconic aciduria presenting as isolated cerebellar ataxia without leukodystrophy: case reports and phenotype expansion.
Flavie Borel, Christel Thauvin, Manuel Schiff, Yannis Duffourd, Frederic Tran Mau Them, Christophe Philippe, Fanny Mochel, Quentin Thomas
Published: 202610.1007/s10072-025-08634-5
Abstract
INTRODUCTION: Type I 3-Methylglutaconic Aciduria (MGCA1) is a metabolic disorder inherited in an autosomal recessive manner. It is caused by a deficiency in the 3-methylglutaconyl-CoA hydratase encoded by the AUH gene, leading to abnormal excretion o…
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