title: Compound heterozygous mutations ofACADSgene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review.
abstract: Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive mitochondrial disorder of fatty acid β-oxidation, and is associated with mutations in the acyl-CoA dehydrogenase (ACADS) gene. Recent advances in spectrometric screening for inborn errors of metabolism have helped detect several metabolic disorders, including SCADD, without symptoms in the neonate period. This allows immediate initiation of treatment and monitoring, so they remain largely symptomless metabolic disease. Here, we report a 15-month-old asymptomatic male, who was diagnosed with SCADD by newborn screening. Spectrometric screening for inborn errors of metabolism 72 hours after birth revealed an elevated butyrylcarnitine (C4) concentration of 2.25 µmol/L (normal, <0.99 µmol/L). Urinary excretion of ethylmalonic acid was also elevated, as detected by urine organic acid analysis. To confirm the diagnosis of SCADD, direct sequencing analysis of 10 coding exons and the exon-intron boundaries of theACADSgene were performed. Subsequent sequence analysis revealed compound heterozygous missense mutations c.164C>T (p.Pro55Leu) and c.1031A>G (p.Glu344Gly) on exons 2 and 9, respectively. The patient is now growing up, unretarded by symptoms such as seizure and developmental delay.
authors.affiliation: Department of Pediatrics, Chungnam National University School of Medicine, Daejeon, Korea.
authors.forename: Se Jin
authors.initials: SJ
authors.lastname: An
authors.affiliation: Korea Genetic Research Center, Cheongju, Korea.
authors.forename: Sook Za
authors.initials: SZ
authors.lastname: Kim
authors.affiliation: Department of Medical Genetic Clinic and Laboratory, Asan Medical Center, Seoul, Korea.
authors.forename: Gu Hwan
authors.initials: GH
authors.lastname: Kim
authors.affiliation: Department of Medical Genetic Clinic and Laboratory, Asan Medical Center, Seoul, Korea.
authors.forename: Han Wook
authors.initials: HW
authors.lastname: Yoo
authors.affiliation: Department of Pediatrics, Chungnam National University School of Medicine, Daejeon, Korea.
authors.forename: Han Hyuk
authors.initials: HH
authors.lastname: Lim
keywords: Acyl CoA dehydrogenase; Infant; Neonatal screening