title: 3-methylglutaconic aciduria type 4 manifesting as Leigh syndrome in 2 siblings.
abstract: The authors report the case of a pair of siblings with 3-methylglutaconic aciduria type 4 manifesting as Leigh syndrome. Disease progression was monitored from birth until the present. Both patients fulfilled the diagnostic criteria for Leigh syndrome along with increased urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid (biochemical markers of methylglutaric acid) in several determinations. No mitochondrial respiratory chain defects in muscle biopsy were detected. Although mitochondrial abnormalities are the most common known cause of Leigh syndrome, there have been several reports of links with nonmitochondrial metabolic disorders. Descriptions of 3-methylglutaric acid type 4 associated with Leigh syndrome are rare.
authors.affiliation: Servicio de Neuropediatría, Hospital Clínico San Carlos, Madrid, Spain.
authors.forename: Nuria Muñoz
authors.initials: NM
authors.lastname: Jareño
authors.forename: Daniel Martín
authors.initials: DM
authors.lastname: Fernández-Mayoralas
authors.forename: Celia Pérez-Cerdá
authors.initials: CP
authors.lastname: Silvestre
authors.forename: Begoña Merinero
authors.initials: BM
authors.lastname: Cortés
authors.forename: Magdalena Ugarte
authors.initials: MU
authors.lastname: Pérez
authors.forename: Jaime
authors.initials: J
authors.lastname: Campos-Castelló
mesh_terms: D001928:Brain Diseases, Metabolic / Q000150:complications* / Q000473:pathology / Q000652:urine; D002675:Child, Preschool; D005260:Female; D005977:Glutarates / Q000652:urine*; D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000150:complications* / Q000473:pathology / Q000652:urine; D008279:Magnetic Resonance Imaging; D008297:Male; D035781:Siblings
chemical_list: D005977:Glutarates; C022034:3-methylglutaconic acid