ubiquinone and 3-methylglutaconic-acid

Coenzyme Q10 was administered under placebo controlled blinded crossover conditions to six subjects suffering from type 3 3-methylglutaconic aciduria ('optic atrophy plus'), following a report of benefit. Despite attainment of high plasma levels of coenzyme Q10, no clinical benefit was observed and there was no diminution of urinary excretion of 3-methylglutaconic acid.

Topics: Administration, Oral; Adolescent; Adult; Child; Coenzymes; Cross-Over Studies; Female; Glutarates; Humans; Male; Movement Disorders; Neuromuscular Diseases; Optic Atrophy; Single-Blind Method; Treatment Failure; Ubiquinone; Visual Acuity

3-Methylglutaconic aciduria is an organic aciduria with diverse phenotypic presentations. In more than half of the cases it is a 'neurologic or silent organic aciduria', and, except for one subtype, the biochemical defect is unknown. This report describes 10 new patients. Four of them presented with early global neurologic involvement and arrested development. They rapidly became demented, developed myoclonus or tonic-clonic seizures, spastic quadriplegia, deafness and blindness, and died. Three had acidosis and hypoglycemia neonatally; later, myoclonus and deafness, and eventually severe mental retardation and spastic quadriplegia developed. One patient died. In three children who presented with sudden onset of extrapyramidal tract symptoms, with or without optic atrophy, the clinical presentation was significantly different from that described either for 'unspecified' type or for Costeff syndrome. All three patients showed clinical improvement soon after treatment with coenzyme Q.

Topics: Acidosis; Basal Ganglia Diseases; Child, Preschool; Female; Glutarates; Humans; Infant; Male; Metabolism, Inborn Errors; Nervous System Diseases; Phenotype; Ubiquinone