3-methylglutaconic aciduria type 3 (3-MGCA 3) is characterized by optic atrophy and/or choreoathetoid movement disorder with onset before age ten years. Optic atrophy is associated with progressive, decreased visual acuity within the first years of life, sometimes associated with infantile-onset...
The heterogeneous group of 3-methylglutaconic aciduria (3-MGA-uria) syndromes includes several inborn errors of metabolism biochemically characterized by increased urinary excretion of 3-methylglutaconic acid. Five distinct types have been recognized: 3-methylglutaconic aciduria type I is an inborn ...
Olahova M, Thompson K, Hardy SA, Barbosa IA, Besse A, Anag- nostou ME et al (2017) Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methyl- glutaconic aciduria. J Inherit Metab Dis 40(1):121...
3-methylglutaconic aciduria type 1 (3-MGA-I) (MIM ID #250950) is an ultra-rare, autosomal recessive organic aciduria, resulting from mutated AUH gene, leading to the deficient 3-methylglutaconyl-CoA hydratase (3-MGH). Only around 40 cases are previously reported, caused by a spectrum of...
The heterogeneous group of 3-methylglutaconic aciduria disorders includes several inborn errors of metabolism that affect mitochondrial function through poorly understood mechanisms. We describe four newborn siblings, from a consanguineous family, who showed microcephaly, small birth weight, severe encephalopa...
The heterogeneous group of 3-methylglutaconic aciduria type IV consists of patients with various organ involvement and mostly progressive neurological impa... SB Wortmann,RJT Rodenburg,J An,... - 《Brain》 被引量: 122发表: 2009年 Mutations in the AUH gene cause 3‐methylglutaconic aciduria typ...
There is, however, a group of disorders with significantly and consistently increased 3-methylglutaconic acid excretion, where the 3-methylglutaconic aciduria is a hallmark of the phenotype and the key to diagnosis: inborn errors with 3-methylglutaconic aciduria as a discriminative feature (3-MGA...
IJlst L, Loupatty FJ, Ruiter JP, Duran M, Lehnert W, Wanders RJ (2002) 3-Methylglutaconic aciduria type I is caused by mutations in AUH. Am J Hum Genet 71:1463-1466IJlst, L., Loupatty, F. J., Ruiter, J. P., Duran, M., Lehnert, W. and Wanders, R. J. (2002). 3-...
1978. 3- Methylglutaconic aciduria: report on a sibship with infantile progressive encephalopathy. Eur. J. Pediatr. 129:231-238.Greter, J., Hagberg, B., Steen, G. and Söderhjelm, U. 3-Methylglutaconic aciduria: Report on a sibship with infantile prograssive encephalopathy. Eur. J. ...
This study presents the case of a 5-year-old male with type IV 3-methylglutaconic aciduria, initially diagnosed as "static encephalopathy." The slow evolution and other clinical characteristics, together with cerebral magnetic resonance imaging (MRI) findings, eventually directed the diagnosis to ...