2-Methylbutyryl-CoA Dehydrogenase Deficiency

mutation in ACADSB

Also Known As:

2-MBCD Deficiency; 2-Methylbutyryl Glycinuria; 2-Methylbutyryl-Coenzyme A Dehydrogenase Deficiency; 2-ethylhydracylic aciduria; Elevated urinary 2-ethylhydracylic acid; Elevated urinary 2-methylbutyrylglycine; SBCADD; Short-Branched-Chain Acyl-CoA Dehydrogenase Deficiency

Networked: 15 relevant articles (0 outcomes, 2 trials/studies)

Disease Context: Research Results

Related Diseases

1.	2-Methylbutyryl-CoA Dehydrogenase Deficiency
2.	isovaleric Acidemia
3.	Isobutyryl-CoA dehydrogenase deficiency
4.	Multiple Acyl Coenzyme A Dehydrogenase Deficiency
5.	Short chain Acyl CoA dehydrogenase deficiency

Experts

1.	Vockley, Jerry: 4 articles (09/2013 - 07/2003)
2.	Andresen, Brage S: 3 articles (09/2007 - 07/2003)
3.	Durkin, Maureen S: 2 articles (09/2013 - 02/2007)
4.	Hoffman, Gary: 2 articles (09/2013 - 02/2007)
5.	Rhead, William: 2 articles (09/2013 - 02/2007)
6.	Gibson, K Michael: 2 articles (01/2012 - 02/2006)
7.	Matern, Dietrich: 2 articles (08/2010 - 07/2003)
8.	Andresen, Brage Storstein: 2 articles (01/2008 - 02/2006)
9.	Wolff, Jon A: 2 articles (02/2007 - 07/2003)
10.	van Calcar, Sandra C: 2 articles (02/2007 - 07/2003)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to 2-Methylbutyryl-CoA Dehydrogenase Deficiency:

1.	Isoleucine (L-Isoleucine)FDA Link 01/01/2008 - "2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism." 03/01/2005 - "2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidation." 06/01/2000 - "2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism." 02/01/2007 - "Subsequent testing showed that the infants did not have isovaleric acidemia, but did have 2-methylbutyryl-CoA dehydrogenase deficiency or 2-MBAD deficiency, a newly described defect of isoleucine metabolism. " 01/01/2022 - "Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) is an inherited disorder of L-isoleucine metabolism due to mutations in the ACADSB gene. "
2.	acylcarnitineIBA 09/01/2013 - "The purposes of this study were to: (a) estimate the prevalence of SBCADD and carrier frequency of the c.1165 A>G mutation in the Hmong ethnic group; (b) determine whether the c.1165 A>G mutation is common to all Hmong newborns screening positive for SBCADD; and (c) evaluate C5 acylcarnitine cut-off values to detect and distinguish between SBCADD and IVA diagnoses. " 09/01/2013 - "Fifteen infants, including nine who had screened positive for SBCADD based on a C5 acylcarnitine concentration ≥0.44μmol/L, were homozygous for the c.1165 A>G mutation. "
3.	EnzymesIBA 03/01/2005 - "Our observation of 2-ethylhydracrylic aciduria in SBCADD implies that a different or alternative enzyme serves this function. " 11/01/2000 - "Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism."
4.	3-methylcrotonyl CoA carboxylase 1 deficiencyIBA 04/01/2023 - "Quantitative analysis of urine acylglycines has shown to be a highly sensitive and specific method with proven clinical utility for the diagnosis of several inherited metabolic disorders including: medium chain acyl-CoA dehydrogenase deficiency, multiple acyl-CoA dehydrogenase deficiency, short chain acyl-CoA dehydrogenase deficiency, 3-methylcrotonyl-CoA carboxylase deficiency, 2-methylbutyryl-CoA dehydrogenase deficiency, isovaleric acidemia, propionic academia, and isobutyryl-CoA dehydrogenase deficiency. " 10/11/2016 - "Quantitative analysis of urine acylglycines has shown to be a highly sensitive and specific method with proven clinical utility for the diagnosis of several inherited metabolic disorders including: medium chain acyl-CoA dehydrogenase deficiency, multiple acyl-CoA dehydrogenase deficiency, short chain acyl-CoA dehydrogenase deficiency, 3-methylcrotonyl-CoA carboxylase deficiency, 2-methylbutyryl-CoA dehydrogenase deficiency, isovaleric acidemia, propionic academia, and isobutyryl-CoA dehydrogenase deficiency. "
5.	2-methylacyl-CoA dehydrogenaseIBA 08/01/2010 - "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. " 07/01/2003 - "2-methylbutyryl-CoA dehydrogenase deficiency, also known as short/branched-chain acyl-CoA dehydrogenase (SBCAD) deficiency, is a recently described autosomal recessive disorder of L-isoleucine metabolism. "
6.	Acyl-CoA DehydrogenasesIBA 11/01/2000 - "Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism."
7.	Biomarkers (Surrogate Marker)IBA 01/01/2022 - "The relatively stable serum C5 values observed during L-carnitine supplementation together with C5 increase occurring upon L-carnitine discontinuation/intercurrent illness may support the value of serum C5 as a monitoring biomarker and the benefit of this treatment in SBCADD patients. "
8.	Valine (L-Valine)FDA Link 11/01/2000 - "Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism."
9.	Oxidoreductases (Dehydrogenase)IBA 09/01/2013 - "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. "
10.	Leucine (L-Leucine)FDA Link 09/01/2013 - "SBCADD is inadvertently detected on expanded newborn screening by elevated 2-methylbutyrylcarnitine (C5), which has the same mass to charge (m/s) on tandem mass spectrometry (MS/MS) as isovalerylcarnitine (C5), an analyte that is elevated in isovaleric acidemia (IVA), a disorder in leucine metabolism. "