Short-chain acyl-coenzyme A dehydrogenase deficiency
Jethva, R.; Bennett, M.J.; Vockley, J.
Molecular Genetics and Metabolism 95(4): 195-200
2008
ISSN/ISBN: 1096-7192 PMID: 18977676 DOI: 10.1016/j.ymgme.2008.09.007
Accession: 023593040
Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a disorder of mitochondrial fatty acid oxidation that leads to the accumulation of butyrylcarnitine and ethylmalonic acid in blood and urine. Originally described with a relatively severe phenotype, most patients are now diagnosed through newborn screening by tandem mass spectrometry and remain asymptomatic.
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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): 1575-1582D.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
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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
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Amendt, B.A.; Greene, C.; Sweetman, L.; Cloherty, J.; Shih, V.; Moon, A.; Teel, L.; Rhead, W.J. 1987: Short-chain acyl-coenzyme a dehydrogenase deficiency. Clinical and biochemical studies in two patients Journal of Clinical Investigation 79(5): 1303-1309
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Shirao, K.; Okada, S.; Tajima, G.; Tsumura, M.; Hara, K.; Yasunaga, S.'i.; Ohtsubo, M.; Hata, I.; Sakura, N.; Shigematsu, Y.; Takihara, Y.; Kobayashi, M. 2010: Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency Human Genetics 127(6): 619-628