Ontology highlight
ABSTRACT:
SUBMITTER: Kaya Ozcora GD
PROVIDER: S-EPMC5874218 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
Kaya Ozcora Gül Demet GD Gokay Songul S Canpolat Mehmet M Kardaş Fatih F Kendirci Mustafa M Kumandaş Sefer S
JIMD reports 20170415
<h4>Background</h4>Glutaric acidemia Type 1 (GA-1) is an autosomal recessively inherited metabolic disorder which is associated with GCDH gene mutations which alters the glutaryl-CoA dehydrogenase, an enzyme playing role in the catabolic pathways of the amino acids lysine, hydroxylysine, and tryptophan. Clinical findings are often encephalopathic crises, dystonia, and extrapyramidal symptoms.<h4>Case report</h4>A 9-month-old male infant referred to our department with focal tonic-clonic seizures ...[more]