Mild and late onset forms of type I 3-methylglutaconic aciduria presenting as isolated cerebellar ataxia without leukodystrophy: case reports and phenotype expansion.

Fiche publication

Date publication

janvier 2026

Journal

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Auteurs

Membres identifiés du Cancéropôle Est :
Pr PHILIPPE Christophe , Mr DUFFOURD Yannis , Pr THAUVIN-ROBINET Christel

Tous les auteurs :
Borel F, Thauvin C, Schiff M, Duffourd Y, Tran Mau Them F, Philippe C, Mochel F, Thomas Q

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/41483232

Résumé

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 of urinary organic acids. While the pediatric phenotype encompasses a spectrum ranging from isolated developmental delay to severe forms with leukodystrophy, developmental delay, spastic tetraplegia and movement disorders, the adult phenotype corresponds to a leukodystrophy with spastic ataxia, progressive dementia, and optic neuropathy. Due to its rarity, MGCA1 is most likely underdiagnosed, or diagnosed with an important delay, leading to inadequate care or genetic counselling. A better understanding of the disease's phenotype is thus required to facilitate its clinical and genetic diagnosis, in turn favoring clinical care and genetic counselling.