Compound heterozygous mutations of ACADS gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review / 소아과
Korean Journal of Pediatrics
;
: S45-S48, 2016.
Article
in English
| WPRIM
| ID: wpr-228465
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, 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Seizures
/
Mass Screening
/
Exons
/
Neonatal Screening
/
Sequence Analysis
/
Mutation, Missense
/
Mitochondrial Diseases
/
Parturition
/
Acyl-CoA Dehydrogenase
/
Butyryl-CoA Dehydrogenase
Type of study:
Diagnostic study
/
Screening study
Limits:
Humans
/
Infant
/
Male
/
Infant, Newborn
Language:
English
Journal:
Korean Journal of Pediatrics
Year:
2016
Type:
Article
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