• Korean Journal of Agricultural Science
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• v.39 no.2
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• pp.219-226
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• 2012

The acyl-CoA dehydrogenase, C-2 to C-3 short chain (ACADS) gene is known to be related with fat metabolism, especially coverts the fat to the energy sources in cattle. In human, the mutations in this gene cause SCAD deficiency, which is one of the fatty acid metabolism disorders. The ACADS gene is located on bovine chromosome 17. The objective of this study was to identify SNPs in Hanwoo ACADS gene and identify the relationships with economic traits. In this study, two SNPs, T1570G SNP in exon 2 and G13917A SNP in exon 4, were observed. Moreover, in the coding region, 2 missense mutations, T (Cys) ${\rightarrow}$ G (Trp) mutation at 1570 bp and G (Arg) ${\rightarrow}$ A (Gln) mutation at 13917 bp, were observed. These mutations were subjected to the PCR-RFLP for typing 198 Hanwoo animals. The observed genotype frequency for T1570G was 0.135 (TT), 0.860 (TG) and 0.005 (GG), respectively. Also, 0.900 (GG) and 0.100 (GA) were observed for the G13917A mutation. The association of these SNPs with four economic traits, CW (Carcass Weight), BF (Backfat Thickness), LMA (Longissimus Muscle Area), MS (Marbling Score), were also observed. The results indicated that no significant results were observed in all four traits (P>0.05). This might indicate that further studies are ultimately needed to use the SNPs in ACADS gene in lager populations for effectively used for the marker assisted selection.

• Journal of Genetic Medicine
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• v.9 no.1
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• pp.42-46
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• 2012

Short-chain acyl-CoA dehydrogenase deficiency (SCADD; OMIM # 201470) is an autosomal recessive inborn error of mitochondrial fatty acid ${\beta}$-oxidation, presenting with a variety of clinical signs and symptoms. Developmental delay, hypertonia or hypotonia, ketotic hypoglycemia, and epilepsy are most frequently reported. In general, patients diagnosed through newborn screening have shown normal growth and development in contrast to those diagnosed as a result of clinically initiated evaluations. Here, the case of an asymptomatic Korean newborn with SCADD identified by tandem mass spectrometry is reported. The patient showed an elevated concentration of butyrylcarnitine detected on newborn screening. Urinary excretion of ethylmalonic acid was elevated by urine organic acid analysis. To confirm the diagnosis of SCADD, a direct sequencing analysis of 10 coding exons and the exon-intron boundaries of the ACADS gene were performed. Genetic analysis of ACADS showed the following novel compound heterozygous missense mutations: c.277C>A (p.Leu93Ile) on exon3 and c.682G>A (p.Glu288Lys) on exon6. These results will provide further evidence of mutational heterogeneity for SCADD.

• Clinical and Experimental Pediatrics
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• v.59 no.sup1
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• pp.45-48
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• 2016

Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive mitochondrial disorder of fatty acid ${\beta}$-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 $2.25{\mu}mol/L$ (normal, < $0.99{\mu}mol/L$). 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.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.2
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• pp.93-97
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• 2015

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is an autosomal recessive hereditary metabolic disorder of mitochondrial fatty acid beta-oxidation. Mutations in the ACADS gene cause short-chain acyl-CoA dehydrogenase deficiency, which is characterized by developmental delay, hypotonia, seizure, and hypoglycemia. Here, we describe one Korean pediatric case of SCAD deficiency, which was diagnosed during newborn screening by tandem mass spectrometry and confirmed by molecular analysis. The level of C4 was typically elevated 5.23 mg/dL (reference range <1.5 mg/dL). This patient had a homozygous mutation [c.1031A>G, p. E344G] in ACADS. Therefore, we present a case of SCAD deficiency in an otherwise healthy neonate and her subsequent development and growth over four years.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.1
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• pp.40-43
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• 2015

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is an autosomal recessive mitochondrial disorder of fatty acid oxidation associated with mutations in the ACADS gene. While patients diagnosed clinically have a variable clinical presentation, patients diagnosed by newborn screening are largely asymptomatic. We describe here the case of a 1-year-old male patient who was detected by newborn screening and diagnosed as SCAD deficiency. Spectrometric screening for inborn errors of metabolism at 72hrs after birth showed elevated butyrylcarnitine (C4) level of 1.69 mol/L (normal, <0.83 mol/L), C4/C2 ration of 0.26 (normal, <0.09), C5DC+C60H level of 39 mol/L (normal, <0.28 mol/L), and C5DC/C8 ration of 7.36 (normal, <4.45). The follow-up testing at 18 days of age were performed: liquid chromatography tandem mass spectrometry (LC-MS/MS), urine organic acids, and quantitative acylcarnitine profile. C4 carnitine was elevated as 0.91; urine organic acid analysis showed elevated ethylmalonic acid as 62.87 nmol/molCr (normal, <6.5), methylsuccinate 6.81 nmol/molCr (normal, not detected). Sequence analysis of ACADS revealed a homozygous missense mutation, c.164C>T (p.Pro55Leu). He is growing well and no episodes of seizures or growth retardation had occurred.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.2
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• pp.98-100
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• 2015

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a rare mitochondrial fatty-acid oxidation disorder that is inherited as an autosomal recessive pattern. SCAD deficiency is caused by mutations in the ACADS gene (Acyl-CoA Dehydrogenase, Short-chain, OMIM #606885), which encodes SCAD, the mitochondrial enzyme that catalyzes the first reaction in the beta-oxidation of fatty acids four to six carbons in length. Here, we describe one Korean pediatric case of SCAD deficiency, which was diagnosed during newborn screening through tandem mass spectrometry. An increased concentration of butyrylcarnitine was detected on the newborn screening test, and the urine organic acid analysis showed increased urinary excretion of ethylmalonic acid. The patient has been asymptomatic and has shown normal growth and development by 8 months of age without any intervention during follow-up period.