title: Brain imaging and genetic risk in the pediatric population, part 1: inherited metabolic diseases.
abstract: In this article, the genotype-MR phenotype correlation of the most common or clinically important inherited metabolic diseases (IMD) in the pediatric population is reviewed. A nonsystematic search of the PubMed/Medline database of relevant studies about "genotype-phenotype correlation" in IMD was performed. Some MR phenotypes related to specific gene mutations were found, such as bilateral hypertrophy of inferior olives in patients harboring POLG and SURF1 mutations, and central lesions in the cervical spinal cord in patients with nonketotic hyperglycinemia harboring GLRX5 gene mutation.
authors.affiliation: Radiology Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: Maria Gabriela
authors.initials: MG
authors.lastname: Longo
authors.affiliation: Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil; Post Graduation Program on Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: Filippo
authors.initials: F
authors.lastname: Vairo
authors.affiliation: Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: Carolina Fischinger
authors.initials: CF
authors.lastname: Souza
authors.affiliation: Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil; Department of Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: Roberto
authors.initials: R
authors.lastname: Giugliani
authors.affiliation: Radiology Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil; Post Graduation Program on Medical Sciences: Medicine, Department of Internal Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil. Electronic address: lvedolin@hcpa.ufrgs.br.
authors.forename: Leonardo Modesti
authors.initials: LM
authors.lastname: Vedolin
mesh_terms: D001921:Brain / Q000473:pathology*; D020739:Brain Diseases, Metabolic, Inborn / Q000175:diagnosis* / Q000235:genetics*; D002648:Child; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods*
keywords: Brain imaging; Genetics; Inborn errors of metabolism; MRI; Magnetic resonance; Metabolic disorder