This website provides information on patients with mutations in the NFU1 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the NFU1 gene is a multisystem disorder characterized by

early-onset encephalopathy with neurological regression, pulmonary hypertension, and hyperglycinemia. However, later-onset cases have also been described mainly characterized by spastic paraplegia and varying degrees of neurodevelopmental delay. Notably, none of the later-presenting cases  have exhibited pulmonary hypertension.

Not all individuals with a mutation in the NFU1 gene have these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the NFU1 gene.

Antonia Ribes, PhD, Department of Biochemistry and Molecular Genetics, Division of Inborn Errors of Metabolism-IBC, Hospital Clinic, IDIBAPS and CIBERER, Barcelona, Spain, aribes@clinic.cat
Roland Lill, PhD, Molecular Cell Biology, Philipps University of Marburg, Germany, lill@staff.uni-marburg.de
Frederic Tort, PhD, Inherited Metabolic Diseases and Muscular Disorders Research Lab. University of Barcelona, IDIBAPS and CIBERER, Barcelona, Spain, ftort@recerca.clinic.cat
Judit García-Villoria, PhD, Department of Biochemistry and Molecular Genetics, Division of Inborn Errors of Metabolism-IBC, Hospital Clinic, IDIBAPS and CIBERER, Barcelona, Spain, jugarcia@clinic.cat
Mireia del Toro, MD, PhD, Pediatric Neurology Department, Vall d’Hebron University Hospital, Barcelona, Spain, mireia.deltoro@vallehebron.cat
Angels García-Cazorla, MD, PhD, Neurometabolic Unit, Hospital Sant Joan de Déu, IRSJD, MetabERN and CIBERER, Barcelona, Spain, angeles.garcia@sjd.es
Jaume Campistol, MD, PhD, Neuropediatric Department, Hospital Sant Joan de Deu, Barcelona, Spain, Jaime.campistol@sjd.es