The mutational spectrum in very long-chain acyl-CoA dehydrogenase deficiency

Journal of Inherited Metabolic Disease

Volumn 19, Issue 2, 1996, Pages 169-172

  Andresen, B S ^a   Vianey Saban, C ^b   Bross, P ^a   Divry, P ^b   Roe, C R ^c   Nada, M A ^c   Knudsen, I ^a   Gregersen, N ^a  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

^b HÔPITAL DEBROUSSE   (France)

^c BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; COMPLEMENTARY DNA; VERY LONG CHAIN FATTY ACID;

CLINICAL ARTICLE; CONFERENCE PAPER; DNA SEQUENCE; ENZYME DEFICIENCY; FIBROBLAST CULTURE; GENE AMPLIFICATION; GENE MUTATION; HUMAN; HUMAN CELL; SKIN FIBROBLAST; SYMPTOM;

ACYL-COA DEHYDROGENASE, LONG-CHAIN; BASE SEQUENCE; CELLS, CULTURED; DNA, COMPLEMENTARY; FIBROBLASTS; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION;

EID: 0029919211     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF01799421     Document Type: Conference Paper

References (7)

1. Aoyama T, Uchida Y, Kelley RI, et al (1993) A novel disease with deficiency of mitochondrial very-loog-ehain acyl-CoA dehydrogenase. Biochem Biophys Res Commun 191: 1369-1372.
2. Aoyama T, Souri M, Ushikubo S, et al (1995) Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients, J Clin Invest 95: 2465-2473.
3. Beinert H (1963) In Boyer PD, Lardy H, Myrback K, eds. The Enzymes, vol. 7. New York: Academic Press, 447-476.
4. Bertrand C, Largillière C, Zabot MT, Mathieu M, Vianey-Saban C (1993) Very-long-chain acyl-CoA dehydrogenase deficiency: identification of new inborn error of mitochondrial fatty acid oxidation in fibroblasts. Biochim. Biophys Acta 1180: 327-329.
5. 329 to glu mutation in the MCAD gene, and expression of inactive mutant protein in E. coli. Hum Genet 86: 545-551.
6. Kim J-P, Wang M, Paschke R (1993) Crystal structures of medium-chain acyl-CoA dehydrogenase from pig liver mitochondria with and without substrate. Proc Natl Acad Sci USA 90: 7523-7527.
7. Treem WR, Stanley CA, Hale DE, Leopold HB, Hyams JS (1991) Hypoglycemia, hypotonia and cardiomyopathy: the evolving clinical picture of long-chain acyl-CoA dehydrogenase deficiency. Pediatrics 87: 328-333.