title: A Korean patient with glutaric aciduria type 1 with a novel mutation in the glutaryl CoA dehydrogenase gene.
abstract: Mutations in the glutaryl-CoA dehydrogenase gene can result in Glutaric aciduria type 1(GA 1) by accumulation of glutaric acid, 3-hydroxyglutaric acid (3-OH-GA), and glutarylcarnitine (C5DC). GA 1 is characterized by macrocephaly, subdural hemorrhage (SDH), and dystonic movement disorder after acute encephalopathic crisis. We report a Korean patient with GA1 and a novel mutation. A 16-month-old boy presented with SDH, macrocephaly, and developmental delay. In the neurologic examination, the patient had mild axial hypotonia, but otherwise normal neurologic functions. The brain MRI showed large amounts of bilateral SDH and high signal intensity in both basal ganglia and thalamus. Metabolic screening tests detected highly elevated urinary GA levels but 3-OH-glutaric acid was normal. C5DC was 0.94 μM/L (reference range < 0.3 μM/L). The patient had compound heterozygous mutations of the GCDH gene: p.Arg257Gln (c.770G>A) and p.Cys308Arg (c.922T>C). p.Cys308Arg is a novel mutation; reports of p.Arg257Gln were also rare both in Caucasians and Asian populations. In summary, we hereby report one Korean patient with GA1 with clinical, biochemical, and radiologic characteristics confirmed by genetic analysis.
authors.affiliation: PhD; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul, Korea, 135-710; phone: +82 2 3410 3539; fax: +82 2 3410 0043; e-mail: hooni0101@hanmail.net.
authors.forename: Hee Su
authors.initials: HS
authors.lastname: Kim
authors.forename: Hee Joon
authors.initials: HJ
authors.lastname: Yu
authors.forename: Jeehun
authors.initials: J
authors.lastname: Lee
authors.forename: Hyung-Doo
authors.initials: HD
authors.lastname: Park
authors.forename: Ji Hye
authors.initials: JH
authors.lastname: Kim
authors.forename: Hyung-Jin
authors.initials: HJ
authors.lastname: Shin
authors.forename: Dong Kyu
authors.initials: DK
authors.lastname: Jin
authors.forename: Munhyang
authors.initials: M
authors.lastname: Lee
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000000981:diagnostic imaging / Q000201:enzymology* / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D001921:Brain / Q000201:enzymology / Q000473:pathology; D001928:Brain Diseases, Metabolic / Q000000981:diagnostic imaging / Q000201:enzymology* / Q000235:genetics*; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D050770:Glutaryl-CoA Dehydrogenase / Q000172:deficiency* / Q000235:genetics*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D056910:Republic of Korea; D014057:Tomography, X-Ray Computed
chemical_list: D050770:Glutaryl-CoA Dehydrogenase
keywords: Glutaryl-CoA dehydrogenase; glutaric aciduria type 1; novel mutation