Korean J Pediatr.  2016 Nov;59(Suppl 1):S45-S48. 10.3345/kjp.2016.59.11.S45.

Compound heterozygous mutations of ACADS gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review

• An SJ
• Kim SZ
• Kim GH
• Yoo HW
• Lim HH

• KMID: 2362253
• DOI: http://doi.org/10.3345/kjp.2016.59.11.S45

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 the ACADS gene 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.

Keyword

Acyl CoA dehydrogenase; Neonatal screening; Infant

MeSH Terms

Acyl-CoA Dehydrogenase*
Butyryl-CoA Dehydrogenase
Clinical Coding
Diagnosis
Exons
Humans
Infant
Infant, Newborn*
Male
Mass Screening
Metabolic Diseases
Metabolism, Inborn Errors
Mitochondrial Diseases
Mutation, Missense
Neonatal Screening
Parturition
Seizures
Sequence Analysis
Acyl-CoA Dehydrogenase
Butyryl-CoA Dehydrogenase