Home
  >  
Section 42
  >  
Chapter 41,358

Short-chain acyl-coenzyme A dehydrogenase deficiency in mice

Wood, P.A.; Amendt, B.A.; Rhead, W.J.; Millington, D.S.; Inoue, F.; Armstrong, D.

Pediatric Research 25(1): 38-43

1989

ISSN/ISBN: 0031-3998
PMID: 2919115
DOI: 10.1203/00006450-198901000-00010
Accession: 041357239
Download citation:  
Text
  |  
BibTeX
  |  
RIS
A murine model for short-chain acyl-coenzyme A dehydrogenase (SCAD) deficiency has been identified and characterized in BALB/cByJ mice. These mice have undetectable SCAD activity, severe organic aciduria; excreting ethylmalonic and methylsuccinic acids and N-butyrylglycine, and develop a fatty liver upon fasting or dietary fat challenge. The mutant mice develop hypoglycemia after an 18-h fast, and have elevated urinary and muscle butyrylcarnitine concentrations. Most of these findings parallel those of human disorders associated with SCAD deficiency and other beta-oxidation defects. This mouse model presents important opportunities to investigate the biology of mammalian fatty acid metabolism and the related human diseases.

PDF emailed within 0-6 h: $19.90




Related References

Naito, E.; Indo, Y.; Tanaka, K. 1990: Identification of two variant short chain acyl-coenzyme a dehydrogenase alleles, each containing a different point mutation in a patient with short chain acyl-coenzyme a dehydrogenase deficiency Journal of Clinical Investigation 85(5): 1575-1582
D.D.nato S.; Gellera, C. 1990: Short chain and medium chain acyl coenzyme a dehydrogenase are lowered in riboflavin responsive lipid myopathies with multiple acyl coenzyme a dehydrogenase deficiency Tanaka, K And P M Coates (Ed ) Progress in Clinical And Biological Research, Vol 321 Fatty Acid Oxidation: Clinical, Biochemical, And Molecular Aspects; International Symposium, Philadelphia, Pennsylvania, Usa, November 6-9, 1988 Xxii+728p Alan R Liss, Inc : New York, New York, Usa Illus 325-332
Naito, E.; Ozasa, H.; Ikeda, Y.; Tanaka, K. 1989: Molecular cloning and nucleotide sequence of complementary DNAs encoding human short chain acyl-coenzyme A dehydrogenase and the study of the molecular basis of human short chain acyl-coenzyme A dehydrogenase deficiency Journal of Clinical Investigation 83(5): 1605-1613
Naito, E.; Ozasa, H.; Ikeda, Y.; Tanaka, K. 1990: Molecular cloning and nucleotide sequence of complementary dna encoding human short chain acyl coenzyme a dehydrogenase and study of the molecular basis of human short chain acyl coenzyme a dehydrogenase deficiency Tanaka, K And P M Coates (Ed ) Progress in Clinical And Biological Research, Vol 321 Fatty Acid Oxidation: Clinical, Biochemical, And Molecular Aspects; International Symposium, Philadelphia, Pennsylvania, Usa, November 6-9, 1988 Xxii+728p Alan R Liss, Inc : New York, New York, Usa Illus 625-632
Amendt, B.A.; Wood, P.A.; Rhead, W.J.; Millington, D.S.; Armstrong, D. 1988: Short chain acyl coenzyme a dehydrogenase deficiency in mice a murine model for beta oxidation defects in man Pediatric Research 23(4 Part 2): 387A
Gregersen, N.; Kolvraa, S. 1984: Medium chain acyl coenzyme a dehydrogenase deficiency apparent michaelis constant and maximal velocity values for fibroblast acyl coenzyme a dehydrogenase towards octanoyl coenzyme a in patient and control cell lines Journal of Inherited Metabolic Disease 7(Suppl 2): 105-106
Matsubara, Y.; Indo, Y.; Naito, E.; Ozasa, H.; Glassberg, R.; Vockley, J.; Ikeda, Y.; Kraus, J.; Tanaka, K. 1989: Molecular cloning and nucleotide sequence of cDNAs encoding the precursors of rat long chain acyl-coenzyme A, short chain acyl-coenzyme A, and isovaleryl-coenzyme a dehydrogenases. Sequence homology of four enzymes of the acyl-CoA dehydrogenase family Journal of Biological Chemistry 264(27): 16321-16331
Jethva, R.; Bennett, M.J.; Vockley, J. 2008: Short-chain acyl-coenzyme A dehydrogenase deficiency Molecular Genetics and Metabolism 95(4): 195-200
Turnbull, D.M.; Shepherd, I.M.; Bartlett, K.; Sherratt, H.S.A. 1990: Short chain acyl coenzyme a dehydrogenase deficiency Tanaka, K And P M Coates (Ed ) Progress in Clinical And Biological Research, Vol 321 Fatty Acid Oxidation: Clinical, Biochemical, And Molecular Aspects; International Symposium, Philadelphia, Pennsylvania, Usa, November 6-9, 1988 Xxii+728p Alan R Liss, Inc : New York, New York, Usa Illus 313-324
Hale, D.E.; Thorpe, C. 1989: Short chain 3 hydroxy acyl coenzyme a dehydrogenase deficiency Pediatric Research 25(4 Part 2): 199A
Ikeda, Y.; Keese, S.M.; Coates, P.M.; Tanaka, K. 1985: Molecular study of mutant medium chain acyl coenzyme a dehydrogenase in cultured fibroblasts from patients with medium chain acyl coenzyme a dehydrogenase deficiency Pediatric Research 19(4 Part 2): 249A
Crombez, E.A.; Fox, M.; Gregersen, N.; Vilain, E. 2002: Short-chain acyl-coenzyme A dehydrogenase deficiency Expanding the phenotype American Journal of Human Genetics 71(4 Suppl): 423
Crombez, E.A.; Fox, M.; Gregersen, N.; Vilain, E. 2003: Congenital anomalies associated with short-chain acyl-coenzyme A dehydrogenase deficiency Genetics in Medicine 5(3): 208
Wood, P.A.; Amendt, B.A.; Rhead, W.J.; Armstrong, D.; Millington, D.S.; Inoue, F. 1990: A murine model for short chain acyl coenzyme a dehydrogenase deficiency Tanaka, K And P M Coates (Ed ) Progress in Clinical And Biological Research, Vol 321 Fatty Acid Oxidation: Clinical, Biochemical, And Molecular Aspects; International Symposium, Philadelphia, Pennsylvania, Usa, November 6-9, 1988 Xxii+728p Alan R Liss, Inc : New York, New York, Usa Illus 427-434
Exil, V.J.; Roberts, R.L.; Sims, H.; McLaughlin, J.E.; Malkin, R.A.; Gardner, C.D.; Ni, G.; Rottman, J.N.; Strauss, A.W. 2003: Very-long-chain acyl-coenzyme a dehydrogenase deficiency in mice Circulation Research 93(5): 448-455
Bhala, A.; Willi, S.M.; Rinaldo, P.; Bennett, M.J.; Schmidt-Sommerfeld, E.; Hale, D.E. 1995: Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency Journal of Pediatrics 126(6): 910-915
Bhala, A.; Willi, S.M.; Rinaldo, P.; Bennett, M.J.; Schmidtsommerfeld, E.; Hale, D.E. 1995: Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency Controversions in the 1990s : Infant Feeding-Where do we go from here ?. Johnson and Johnson Symposium 126(6): 910-915
Kim, S.H.; Park, H.-D.; Sohn, Y.B.; Park, S.W.; Cho, S.Y.; Ji, S.; Kim, S.J.; Choi, E.W.; Kim, C.H.; Ko, A.-R.; Yeau, S.; Paik, K.-H.; Jin, D.-K. 2011: Mutations of ACADS gene associated with short-chain acyl-coenzyme a dehydrogenase deficiency Annals of Clinical and Laboratory Science 41(1): 84-88
Matern, D.; Hart, P.; Murtha, A.P.; Vockley, J.; Gregersen, N.; Millington, D.S.; Treem, W.R. 2001: Acute fatty liver of pregnancy associated with short-chain acyl-coenzyme a dehydrogenase deficiency Journal of Pediatrics 138(4): 585-588
Van Maldegem, B.T.; Duran, M.; Wanders, R.J.A.; Niezen-Koning, K.E.; Hogeveen, M.; Ijlst, L.; Waterham, H.R.; Wijburg, F.A. 2006: Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme a dehydrogenase deficiency JAMA 296(8): 943-952