Clinical and genetic features of patients with glutaric aciduria type I (GA1)

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Author list: Troncoso M, Santander P, Ruiz I, Yanez C, Faure F, Diaz R, Troncoso L, Barrios A, Tello J
Publisher: Elsevier
Publication year: 2015
Journal: Journal of the Neurological Sciences (0022-510X)
Volume number: 357
Start page: E426
End page: E426
ISSN: 0022-510X
Languages: English-Great Britain (EN-GB)


Abstract

Introduction:GA1 is a metabolic disorder produced by a defect onglutaryl CoA dehydrogenase (GCDH) enzyme, in the GCDH genelocalized in 19p13.2 chromosome.Objective:To analyze clinical manifestations, neurologic evolution,imaging characteristics and type of mutations found in children withdiagnosis controlled in our service.Materials and method:Retrospective-descriptive study and pro-spective analysis of 11 children diagnosed in our center in the last17 years, with positive genetic studies.Results:Of a total of 11 patients, six were male. Eight debuted withan encephalitis-like episode at a mean age of 9,9 months. The threeremaining patients debuted with psychomotor delay (mean age4 months) with two of them presenting an encephalitis-like crisislater. Three patients progressed with macrocephaly. One patientpresented mild, two moderate and eight severe disability. CerebralRM in acute episode showed basal ganglia and white mattercompromise, bifrontotemporal atrophy, progressing to striatalatrophy. Residual enzymatic activity was deficient in four patientswho were studied. Mutations found were heterozygous to R161Q/R402W, Y133H/R161Q, Y133H/R402W, V133/A385V and homozy-gous to R402W/R402W, A293T/A293T, Y113H/Y113H. No relation-ship was found between neurologic severity and specific genotype.Conclusion:In our series, the most frequent presentation was anencephalitis-like episode. The most invalidating symptoms wereextrapyramidal and neuroimageswere distinctive. The homozy-gous and heterozygous mutation in Y113H and R402W are frequentin chilean population, being Y113H exclusive in this population.The biochemical genotype and phenotype did not predict clinicalcourse. In conclusion, presymptomatic diagnosis of this affectionallows an appropriate management with a favorable evolution.


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Last updated on 2019-23-08 at 11:16