title: Mutations of ACADS gene associated with short-chain acyl-coenzyme A dehydrogenase deficiency.
abstract: Short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD) is an autosomal recessive disorder of mitochondrial fatty acid oxidation associated with mutations in the ACADS gene (Acyl-CoA Dehydrogenase, Short-chain, OMIM #606885). SCADD is a heterogeneous condition that has been associated with various clinical phenotypes ranging from fetal metabolic decompensation in infancy to asymptomatic individuals. Here, the first Korean neonate diagnosed with SCADD by biochemical and genetic findings is reported. The patient has remained asymptomatic by avoiding hypoglycemia. An increased concentration of butylcarnitine was detected on newborn screening. Subsequent urine organic acid analysis showed increased urinary excretion of ethylmalonic acid. To confirm the presence of the genetic abnormality, all the coding exons of the ACADS gene and flanking introns were amplified by the polymerase chain reaction (PCR). Sequence analysis of the ACADS gene revealed novel homozygous missence mutations, c. 1031A>G (p.E344G) in exon 9. In summary, the first Korean patient with confirmed SCADD by genetic analysis is reported with novel mutation.
authors.affiliation: Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Se Hwa
authors.initials: SH
authors.lastname: Kim
authors.forename: Hyung-Doo
authors.initials: HD
authors.lastname: Park
authors.forename: Young Bae
authors.initials: YB
authors.lastname: Sohn
authors.forename: Sung Won
authors.initials: SW
authors.lastname: Park
authors.forename: Sung Yoon
authors.initials: SY
authors.lastname: Cho
authors.forename: Suntae
authors.initials: S
authors.lastname: Ji
authors.forename: Su Jin
authors.initials: SJ
authors.lastname: Kim
authors.forename: Eun Wha
authors.initials: EW
authors.lastname: Choi
authors.forename: Chi Hwa
authors.initials: CH
authors.lastname: Kim
authors.forename: Ah-Ra
authors.initials: AR
authors.lastname: Ko
authors.forename: Sunghee
authors.initials: S
authors.lastname: Yeau
authors.forename: Kyung-Hoon
authors.initials: KH
authors.lastname: Paik
authors.forename: Dong-Kyu
authors.initials: DK
authors.lastname: Jin
mesh_terms: D042964:Acyl-CoA Dehydrogenase / Q000172:deficiency / Q000235:genetics*; D001483:Base Sequence; D002331:Carnitine / Q000031:analogs & derivatives / Q000378:metabolism; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D008052:Lipid Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*
chemical_list: C116917:acylcarnitine; D042964:Acyl-CoA Dehydrogenase; D002331:Carnitine