Multiple acyl-CoA dehydrogenase deficiency. Report of 2 siblings
Guffon, N.; Vianey-Saban, C.; Berthier, J.C.; Till, M.; Bertrand, C.; Divry, P.; Guibaud, P.
Pediatrie 48(5): 365-371
1993
ISSN/ISBN: 0031-4021 PMID: 7777389 Document Number: 421037
The authors report on two siblings with a multiple acyl-CoA dehydrogenase deficiency. The first child died from a Reye's syndrome when he was 9 month-old. The diagnosis was made in the neonatal period in his brother. Early treatment with glucose and carnitine should prevent acute attacks.
Document emailed within 1 workday
Related Documents
Hasegawa, Y.; Yamaguchi, S. 2002: Very-long-chain acyl-CoA dehydrogenase deficiency Nihon Rinsho. Japanese Journal of Clinical Medicine 60(Suppl 4): 717-721Gregersen, N.; Winter, V.; Kølvraa, S.; Andresen, B.S.; Bross, P.; Blakemore, A.; Curtis, D.; Bolund, L. 1992: Molecular analysis of medium-chain acyl-CoA dehydrogenase deficiency: a diagnostic approach Progress in Clinical and Biological Research 375: 441-452
Alluri, V.N.; Mulvihill, J.J. 2002: Medium chain acyl coenzyme a dehydrogenase (MCAD) deficiency: the case for screening all newborns Journal of the Oklahoma State Medical Association 95(5): 326-328
Stępień, K.M.; Roberts, M.; Hendriksz, C.J. 2015: Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency--diagnostic difficulties and own experience in multidisciplinary management Developmental Period Medicine 19(4): 450-453
Tsai, M.Y.; Schwichtenberg, K.; Tuchman, M. 1993: Laboratory diagnosis of medium-chain acyl-coenzyme a dehydrogenase deficiency by the amplification refractory mutation system Clinical Chemistry 39(2): 280-283
Rhoades, E.; King, P. 2001: Public health explores expanding newborn screening for cystic fibrosis, congenital adrenal hyperplasia, and medium-chain acyl coenzyme a dehydrogenase deficiency (MCAD) Journal of the Oklahoma State Medical Association 94(4): 129-132
Lecoq, I.; Mallet, E.; Bonté, J.B.; Laroche, D.; Travert, G. 1995: Screening of A985 to G mutation of medium-chain acyl-CoA dehydrogenase (MCAD) gene in Normandy. Evaluation of the role of MCAD deficiency in sudden infant death Comptes Rendus des Seances de la Societe de Biologie et de ses Filiales 189(2): 295-301
Goh, A.; Lim, K.W. 1997: Sulphite oxidase deficiency--a report of two siblings Singapore Medical Journal 38(9): 391-394
Ofiaeli, R.O. 1998: Congenital longitudinal deficiency of the tibia--report of two cases, both siblings of same parentage West African Journal of Medicine 17(2): 121-123
Agboola-Abu, C.F.; Aligwekwe, P.K.; Olowu, A.O.; Kuku, S.F. 1999: Congenital adrenal hyperplasia due to 11-hydroxylase enzyme deficiency in three siblings. A brief report West African Journal of Medicine 18(2): 80-86
Yu, M.W.; Hsiao, K.J.; Wuu, K.D.; Chen, C.J. 1992: Association between glucose-6-phosphate dehydrogenase deficiency and neonatal jaundice: interaction with multiple risk factors International Journal of Epidemiology 21(5): 947-952
Adamson, J.E.; Taddeo, R.J.; Gwyn, P.P. 1970: Loss of flaps due to glucose-6-phosphate dehydrogenase deficiency. Case report Plastic and Reconstructive Surgery 46(3): 301-304
Frerman, F.E.; Turnbull, D. 1990: Interaction of medium chain acyl-CoA dehydrogenase with substrate and electron transfer flavoprotein Progress in Clinical and Biological Research 321: 79-89
Indo, Y.; Ozasa, H.; Ikeda, Y.; Tanaka, K. 1990: Molecular cloning and nucleotide sequence of cDNA encoding the rat long chain acyl-CoA dehydrogenase precursor Progress in Clinical and Biological Research 321: 633-636
Real, L.M.; Gayoso, A.J.; Olivera, M.; Carúz, A.; Ruiz, A.; Gayoso, F. 2001: Detection of nucleotide c985 A-->G mutation of medium-chain acyl-CoA dehydrogenase gene by real-time PCR Clinical Chemistry 47(5): 958-959
Wood, P.A.; Farmer, S.C.; Tolwani, R.J.; Warren, J.R.; Steinkampf, M.P.; Johnson, L.W.; Mountz, J.D.; Kelly, D.P. 1992: Molecular studies of mouse medium and long-chain acyl-CoA dehydrogenase genes for site-directed mutagenesis of embryonic stem cells Progress in Clinical and Biological Research 375: 151-160
Colomer Oferil, J.; Yoldi, M.E.; Vila Torres, J. 1990: Muscular phosphorylase deficiency in two siblings Anales Espanoles de Pediatria 32(2): 154-158
De Medio, G.E.; Amaducci, L.; Borri, P.; Gaiti, A.; Porcellati, G. 1972: Lecithin: cholesterol acyl-transferase activity in the plasma of patients with multiple sclerosis Acta Neurologica 27(2): 101-107
Ropenga, J.; Grudziński, S. 1975: Synthesis of potential tuberculostatics of the hydrazinoamine group. XI. Preparation of N1-acyl-N2-(2-acylaminoethyl) hydrazines with equal acyl groups Acta Poloniae Pharmaceutica 32(6): 657-662
Krull, F.; Ohlendorf, K. 1993: Hypothyroid iodine deficiency struma in 2 siblings as a sequela of alternative nutrition Monatsschrift Kinderheilkunde: Organ der Deutschen Gesellschaft für Kinderheilkunde 141(6): 481-482