Leukoencephalopathy with cysts and hyperglycinemia may result from NFU1 deficiency

Abstract : Lipoic acid metabolism defects are new metabolic disorders that cause neurological, cardiomuscular or pulmonary impairment. We report on a patient that presented with progressive neurological regression suggestive of an energetic disease, involving leukoencephalopathy with cysts. Elevated levels of glycine in plasma, urine and CSF associated with intermittent increases of lactate were consistent with a defect in lipoic acid metabolism. Support for the diagnosis was provided by pyruvate dehydrogenase deficiency and multiple mitochondrial respiratory chain deficiency in skin fibroblasts, as well as no lipoylated protein by western blot. Two mutations in the NFU1 gene confirmed the diagnosis. The p.Gly208Cys mutation has previously been reported suggesting a founder effect in Europe.
Type de document :
Article dans une revue
Liste complète des métadonnées

https://hal.umontpellier.fr/hal-02181366
Contributeur : Cécile Nowak <>
Soumis le : vendredi 12 juillet 2019 - 09:19:20
Dernière modification le : dimanche 14 juillet 2019 - 01:57:01

Identifiants

Citation

M. Nizon, A. Boutron, N. Boddaert, A. Slama, Hélène Delpech, et al.. Leukoencephalopathy with cysts and hyperglycinemia may result from NFU1 deficiency. Mitochondrion, 2014, 15, pp.59--64. ⟨10.1016/j.mito.2014.01.003⟩. ⟨hal-02181366⟩

Partager

Métriques

Consultations de la notice

31