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Reduced short-chain acyl-CoA dehydrogenase activity

MedGen UID:
1841964
•Concept ID:
C5826592
•
Finding
HPO: HP:0034690

Definition

Diminished activity of the enzyme Short-chain acyl-CoA dehydrogenase (SCAD), a key enzyme of fatty acid beta-oxidation that catalyzes the first step in mitochondrial beta-oxidation of fatty acids. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduced short-chain acyl-CoA dehydrogenase activity

Professional guidelines

PubMed

Expanded newborn screening: reducing harm, assessing benefit.
Wilcken B
J Inherit Metab Dis 2010 Oct;33(Suppl 2):S205-10. Epub 2010 May 4 doi: 10.1007/s10545-010-9106-6. PMID: 20440650
Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening.
Pedersen CB, Bischoff C, Christensen E, Simonsen H, Lund AM, Young SP, Koeberl DD, Millington DS, Roe CR, Roe DS, Wanders RJ, Ruiter JP, Keppen LD, Stein Q, Knudsen I, Gregersen N, Andresen BS
Pediatr Res 2006 Sep;60(3):315-20. Epub 2006 Jul 20 doi: 10.1203/01.pdr.0000233085.72522.04. PMID: 16857760

Recent clinical studies

Etiology

Broad substrate specificity of phosphotransbutyrylase from Listeria monocytogenes: A potential participant in an alternative pathway for provision of acyl CoA precursors for fatty acid biosynthesis.
Sirobhushanam S, Galva C, Sen S, Wilkinson BJ, Gatto C
Biochim Biophys Acta 2016 Sep;1861(9 Pt A):1102-1110. Epub 2016 Jun 15 doi: 10.1016/j.bbalip.2016.06.003. PMID: 27320015Free PMC Article
Impact of short- and medium-chain organic acids, acylcarnitines, and acyl-CoAs on mitochondrial energy metabolism.
Sauer SW, Okun JG, Hoffmann GF, Koelker S, Morath MA
Biochim Biophys Acta 2008 Oct;1777(10):1276-82. Epub 2008 Jun 3 doi: 10.1016/j.bbabio.2008.05.447. PMID: 18582432
Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin.
Tein I, Elpeleg O, Ben-Zeev B, Korman SH, Lossos A, Lev D, Lerman-Sagie T, Leshinsky-Silver E, Vockley J, Berry GT, Lamhonwah AM, Matern D, Roe CR, Gregersen N
Mol Genet Metab 2008 Feb;93(2):179-89. Epub 2007 Dec 3 doi: 10.1016/j.ymgme.2007.09.021. PMID: 18054510
Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency.
Corydon MJ, Vockley J, Rinaldo P, Rhead WJ, Kjeldsen M, Winter V, Riggs C, Babovic-Vuksanovic D, Smeitink J, De Jong J, Levy H, Sewell AC, Roe C, Matern D, Dasouki M, Gregersen N
Pediatr Res 2001 Jan;49(1):18-23. doi: 10.1203/00006450-200101000-00008. PMID: 11134486
Identification of the catalytic residue of human short/branched chain acyl-CoA dehydrogenase by in vitro mutagenesis.
Binzak B, Willard J, Vockley J
Biochim Biophys Acta 1998 Jan 15;1382(1):137-42. doi: 10.1016/s0167-4838(97)00161-1. PMID: 9507094

Diagnosis

Diverse and unselected adults with clinically relevant ACADS variants lack evidence of metabolic disease.
Breilyn MS, Kenny EE, Abul-Husn NS
Mol Genet Metab 2023 Jan;138(1):106971. Epub 2022 Dec 15 doi: 10.1016/j.ymgme.2022.106971. PMID: 36549199Free PMC Article
A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency.
Young SP, Matern D, Gregersen N, Stevens RD, Bali D, Liu HM, Koeberl DD, Millington DS
Clin Chim Acta 2003 Nov;337(1-2):103-13. doi: 10.1016/j.cccn.2003.07.006. PMID: 14568186
Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency.
Corydon MJ, Vockley J, Rinaldo P, Rhead WJ, Kjeldsen M, Winter V, Riggs C, Babovic-Vuksanovic D, Smeitink J, De Jong J, Levy H, Sewell AC, Roe C, Matern D, Dasouki M, Gregersen N
Pediatr Res 2001 Jan;49(1):18-23. doi: 10.1203/00006450-200101000-00008. PMID: 11134486
Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency.
Bhala A, Willi SM, Rinaldo P, Bennett MJ, Schmidt-Sommerfeld E, Hale DE
J Pediatr 1995 Jun;126(6):910-5. doi: 10.1016/s0022-3476(95)70207-5. PMID: 7776094
Lipid storage myopathy in multiple acyl-CoA dehydrogenase deficiency: an adult case.
Mongini T, Doriguzzi C, Palmucci L, De Francesco A, Bet L, Manfredi L, Ponzetto C, Bresolin N
Eur Neurol 1992;32(3):170-6. doi: 10.1159/000116817. PMID: 1592075

Therapy

Flavin adenine dinucleotide ameliorates hypertensive vascular remodeling via activating short chain acyl-CoA dehydrogenase.
Zhong X, Ma Z, Su Y, Li Z, Liao Y, Pan X, Zang L, Zhou S
Life Sci 2020 Oct 1;258:118156. Epub 2020 Jul 28 doi: 10.1016/j.lfs.2020.118156. PMID: 32735886
Therapeutic effects of L-carnitine and propionyl-L-carnitine on cardiovascular diseases: a review.
Ferrari R, Merli E, Cicchitelli G, Mele D, Fucili A, Ceconi C
Ann N Y Acad Sci 2004 Nov;1033:79-91. doi: 10.1196/annals.1320.007. PMID: 15591005
Late-onset riboflavin-responsive myopathy with combined multiple acyl coenzyme A dehydrogenase and respiratory chain deficiency.
Antozzi C, Garavaglia B, Mora M, Rimoldi M, Morandi L, Ursino E, DiDonato S
Neurology 1994 Nov;44(11):2153-8. doi: 10.1212/wnl.44.11.2153. PMID: 7969976
Normalization of short-chain acylcoenzyme A dehydrogenase after riboflavin treatment in a girl with multiple acylcoenzyme A dehydrogenase-deficient myopathy.
DiDonato S, Gellera C, Peluchetti D, Uziel G, Antonelli A, Lus G, Rimoldi M
Ann Neurol 1989 May;25(5):479-84. doi: 10.1002/ana.410250510. PMID: 2774489
Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels.
Stanley CA, Hale DE, Coates PM, Hall CL, Corkey BE, Yang W, Kelley RI, Gonzales EL, Williamson JR, Baker L
Pediatr Res 1983 Nov;17(11):877-84. doi: 10.1203/00006450-198311000-00008. PMID: 6646897

Prognosis

Expanded newborn screening: reducing harm, assessing benefit.
Wilcken B
J Inherit Metab Dis 2010 Oct;33(Suppl 2):S205-10. Epub 2010 May 4 doi: 10.1007/s10545-010-9106-6. PMID: 20440650
Oxidase activity of the acyl-CoA dehydrogenases.
DuPlessis ER, Pellett J, Stankovich MT, Thorpe C
Biochemistry 1998 Jul 21;37(29):10469-77. doi: 10.1021/bi980767s. PMID: 9671517

Clinical prediction guides

Short-chain 3-hydroxyacyl-CoA dehydrogenase is a negative regulator of insulin secretion in response to fuel and non-fuel stimuli in INS832/13 β-cells.
Pepin E, Guay C, Delghingaro-Augusto V, Joly E, Madiraju SR, Prentki M
J Diabetes 2010 Sep;2(3):157-67. doi: 10.1111/j.1753-0407.2010.00076.x. PMID: 20923481
Impairment of mitochondrial acetoacetyl CoA thiolase activity in the colonic mucosa of patients with ulcerative colitis.
Santhanam S, Venkatraman A, Ramakrishna BS
Gut 2007 Nov;56(11):1543-9. Epub 2007 May 4 doi: 10.1136/gut.2006.108449. PMID: 17483192Free PMC Article
Mitochondrial fatty acid beta-oxidation in the human eye and brain: implications for the retinopathy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Tyni T, Paetau A, Strauss AW, Middleton B, Kivelä T
Pediatr Res 2004 Nov;56(5):744-50. Epub 2004 Sep 3 doi: 10.1203/01.PDR.0000141967.52759.83. PMID: 15347768
Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency.
Corydon MJ, Vockley J, Rinaldo P, Rhead WJ, Kjeldsen M, Winter V, Riggs C, Babovic-Vuksanovic D, Smeitink J, De Jong J, Levy H, Sewell AC, Roe C, Matern D, Dasouki M, Gregersen N
Pediatr Res 2001 Jan;49(1):18-23. doi: 10.1203/00006450-200101000-00008. PMID: 11134486
Oxidase activity of the acyl-CoA dehydrogenases.
DuPlessis ER, Pellett J, Stankovich MT, Thorpe C
Biochemistry 1998 Jul 21;37(29):10469-77. doi: 10.1021/bi980767s. PMID: 9671517

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