3-methylglutaconic aciduria type 4 manifesting as Leigh syndrome in 2 siblings.
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.
Jareño
Nuria Muñoz
NM
Servicio de Neuropediatría, Hospital Clínico San Carlos, Madrid, Spain.
Fernández-Mayoralas
Daniel Martín
DM
Silvestre
Celia Pérez-Cerdá
CP
Cortés
Begoña Merinero
BM
Pérez
Magdalena Ugarte
MU
Campos-Castelló
Jaime
J
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
D005977:Glutarates; C022034:3-methylglutaconic acid