Biochemical, Clinical, and Genetic Characteristics of Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients by Newborn Screening.
Front Genet. 2019.
PMID: 31555323
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Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin.
Mol Genet Metab. 2013.
PMID: 23712021
Free PMC article.
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Aspects of Newborn Screening in Isovaleric Acidemia.
Int J Neonatal Screen. 2018 Jan 29;4(1):7. doi: 10.3390/ijns4010007. eCollection 2018 Mar.
Int J Neonatal Screen. 2018.
PMID: 33072933
Free PMC article.
Review.
Isovaleric acidemia (IVA), an inborn error of leucine catabolism, is caused by mutations in the isovaleryl-CoA dehydrogenase (IVD) gene, resulting in the accumulation of derivatives of isovaleryl-CoA including isovaleryl (C5)-carnitine, the marker metabolite …
Isovaleric acidemia (IVA), an inborn error of leucine catabolism, is caused by mutations in the isovaleryl-CoA dehydrogenase ( …
Identification of Six Novel Variants of ACAD8 in Isobutyryl-CoA Dehydrogenase Deficiency With Increased C4 Carnitine Using Tandem Mass Spectrometry and NGS Sequencing.
Front Genet. 2022 Jan 28;12:791869. doi: 10.3389/fgene.2021.791869. eCollection 2021.
Front Genet. 2022.
PMID: 35154245
Free PMC article.
Isobutyryl-CoA dehydrogenase deficiency (IBDHD, MIM: #611283) is a rare autosomal recessive hereditary disease, which is caused by genetic mutations of acyl-CoA dehydrogenase (ACAD) 8 and associated with valine catabolism. ...In addition, …
Isobutyryl-CoA dehydrogenase deficiency (IBDHD, MIM: #611283) is a rare autosomal recessive hereditary disease, which i …
Biochemical, Clinical, and Genetic Characteristics of Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients by Newborn Screening.
Front Genet. 2019 Aug 28;10:802. doi: 10.3389/fgene.2019.00802. eCollection 2019.
Front Genet. 2019.
PMID: 31555323
Free PMC article.
Short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) is an autosomal recessive disorder of impaired isoleucine catabolism caused by mutations in the ACADSB gene. ...
Short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) is an autosomal recessive disorder of imp …
Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin.
Mol Genet Metab. 2013 Sep-Oct;110(1-2):111-5. doi: 10.1016/j.ymgme.2013.03.021. Epub 2013 Apr 15.
Mol Genet Metab. 2013.
PMID: 23712021
Free PMC article.
Short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD), also called 2-methylbutyryl CoA dehydrogenase deficiency (2-MBCDD), is a disorder of l-isoleucine metabolism of uncertain clinical significance. ...
Short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD), also called 2-methylbutyryl CoA …
2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report.
J Med Case Rep. 2007 Sep 20;1:98. doi: 10.1186/1752-1947-1-98.
J Med Case Rep. 2007.
PMID: 17883863
Free PMC article.
BACKGROUND: 2-methylbutyryl-CoA dehydrogenase deficiency or short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) is caused by a defect in the degradation pathway of the amino acid L-isoleucine. ...
BACKGROUND: 2-methylbutyryl-CoA dehydrogenase deficiency or short/branched chain acyl-CoA dehyd …
Human long chain, very long chain and medium chain acyl-CoA dehydrogenases are specific for the S-enantiomer of 2- methylpentadecanoyl-CoA.
Biochim Biophys Acta. 1998 Feb 23;1390(3):333-8. doi: 10.1016/s0005-2760(97)00185-9.
Biochim Biophys Acta. 1998.
PMID: 9487154
The acyl-CoA dehydrogenases are a family of mitochondrial flavoenzymes involved in fatty acid and branched chain amino-acid metabolism. Long chain acyl-CoA dehydrogenase (LCAD) and short/branched chain acyl- …
The acyl-CoA dehydrogenases are a family of mitochondrial flavoenzymes involved in fatty acid and branched chain …
Metabolic analysis reveals evidence for branched chain amino acid catabolism crosstalk and the potential for improved treatment of organic acidurias.
Mol Genet Metab. 2019 Sep-Oct;128(1-2):57-61. doi: 10.1016/j.ymgme.2019.05.008. Epub 2019 May 21.
Mol Genet Metab. 2019.
PMID: 31133529
Free PMC article.
Three different acyl-CoA dehydrogenases (ACADs) are active in each catabolic pathway and genetic deficiencies in each have been identified. ...Stable isotope labeled LEU, ILE, and VAL in patient and control cell lines revealed that mutations in isobuty …
Three different acyl-CoA dehydrogenases (ACADs) are active in each catabolic pathway and genetic deficiencies in …
Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening.
Mol Genet Metab. 2010 Aug;100(4):333-8. doi: 10.1016/j.ymgme.2010.04.014. Epub 2010 May 23.
Mol Genet Metab. 2010.
PMID: 20547083
Free PMC article.
Short/branched chain acyl-CoA dehydrogenase (SBCAD) deficiency, also known as 2-methylbutyryl-CoA dehydrogenase deficiency, is a recently described autosomal recessive disorder of isoleucine metabolism. ...Escherichia coli e …
Short/branched chain acyl-CoA dehydrogenase (SBCAD) deficiency, also known as 2-methylbutyryl-CoA …
2-Methylbutyrylglycine induces lipid oxidative damage and decreases the antioxidant defenses in rat brain.
Brain Res. 2012 Oct 10;1478:74-82. doi: 10.1016/j.brainres.2012.08.039. Epub 2012 Aug 29.
Brain Res. 2012.
PMID: 22967964
Short/branched chain acyl-CoA dehydrogenase (SBCAD) deficiency is an autosomal recessive disorder of isoleucine metabolism biochemically characterized by accumulation of 2-methylbutyrylglycine (2MBG) and 2-methylbutyric acid (2MB). ...Therefore, …
Short/branched chain acyl-CoA dehydrogenase (SBCAD) deficiency is an autosomal recessive disorder of isol …
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