메뉴 건너뛰기




Volumn 29, Issue 9, 2003, Pages 1594-1597

Adult presentation of MCAD deficiency revealed by coma and severe arrythmias

Author keywords

Adult; Arrhythmia; Coma; Hyperammonemia; Hypoglycaemia; Medium chain acyl CoA dehydrogenase deficiency

Indexed keywords

ACYLCARNITINE; AMIODARONE; GLUCOSE; LIDOCAINE;

EID: 0141788341     PISSN: 03424642     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00134-003-1871-3     Document Type: Article
Times cited : (67)

References (20)
  • 1
    • 0000044868 scopus 로고    scopus 로고
    • Mitochondrial fatty acid oxidation disorders
    • Scriver CR, Beaudet AL, Sly W, Valle D (eds). McGraw-Hill, New York
    • Roe CR, Ding J (2001) Mitochondrial fatty acid oxidation disorders. In: Scriver CR, Beaudet AL, Sly W, Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 2297-2326
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 2297-2326
    • Roe, C.R.1    Ding, J.2
  • 3
    • 17644435180 scopus 로고    scopus 로고
    • Retrospective biochemical screening of fatty acid oxidation disorders in postmortem liver of 418 cases of sudden unexpected death in the first year of life
    • Boles RG, Buck EA, Blitzer MG, Platt MS, Cowan TM, Martin SK, Yoon H, Madsen JA, Reyes-Mugica M, Rinaldo P (1998) Retrospective biochemical screening of fatty acid oxidation disorders in postmortem liver of 418 cases of sudden unexpected death in the first year of life. J Pediatr 132:924-933
    • (1998) J Pediatr , vol.132 , pp. 924-933
    • Boles, R.G.1    Buck, E.A.2    Blitzer, M.G.3    Platt, M.S.4    Cowan, T.M.5    Martin, S.K.6    Yoon, H.7    Madsen, J.A.8    Reyes-Mugica, M.9    Rinaldo, P.10
  • 7
    • 0033188330 scopus 로고    scopus 로고
    • Medium-chain acyl-CoA dehydrogenase deficiency: Sudden and unexpected death of a 45-year-old woman
    • Raymond K, Bale AE Barnes CA, Rinaldo P (1999) Medium-chain acyl-CoA dehydrogenase deficiency: sudden and unexpected death of a 45-year-old woman. Genet Med 1:293-294
    • (1999) Genet Med , vol.1 , pp. 293-294
    • Raymond, K.1    Bale, A.E.2    Barnes, C.A.3    Rinaldo, P.4
  • 8
    • 0028131232 scopus 로고
    • Metabolic disease and sudden, unexpected death in infancy
    • Bennett MJ, Powell S (1994) Metabolic disease and sudden, unexpected death in infancy. Hum Pathol 25:742-746
    • (1994) Hum Pathol , vol.25 , pp. 742-746
    • Bennett, M.J.1    Powell, S.2
  • 9
    • 0014404611 scopus 로고
    • Relation between serum free fatty acids and arrhytmias and death after acute myocardial infarction
    • Oliver MF, Kurien VA, Greenwood TW (1968) Relation between serum free fatty acids and arrhytmias and death after acute myocardial infarction. Lancet 1:710-715
    • (1968) Lancet , vol.1 , pp. 710-715
    • Oliver, M.F.1    Kurien, V.A.2    Greenwood, T.W.3
  • 10
    • 0035217004 scopus 로고    scopus 로고
    • Postinfarction heart failure in rats is associated with upregulation of GLUT-1 and down-regulation of genes of fatty acid metabolism
    • Rosenblatt-Velin N, Montessuit C, Papageorgiou I, Terrand J, Lerch R (2001) Postinfarction heart failure in rats is associated with upregulation of GLUT-1 and down-regulation of genes of fatty acid metabolism. Cardiovasc Res 52:407-416
    • (2001) Cardiovasc Res , vol.52 , pp. 407-416
    • Rosenblatt-Velin, N.1    Montessuit, C.2    Papageorgiou, I.3    Terrand, J.4    Lerch, R.5
  • 11
    • 0001294611 scopus 로고
    • Long-chain acylcarnitine increases intracellular Ca2+ and induces after depolarization in adult ventricular myocytes
    • Fischbach PS, Corr PB, Yamada KA. (1992) Long-chain acylcarnitine increases intracellular Ca2+ and induces after depolarization in adult ventricular myocytes. Circulation 86:748
    • (1992) Circulation , vol.86 , pp. 748
    • Fischbach, P.S.1    Corr, P.B.2    Yamada, K.A.3
  • 13
    • 0018876377 scopus 로고
    • Physiological roles of ketone bodies as substrates and signals in mammalian tissues
    • Robinson AM, Williamson DH (1980) Physiological roles of ketone bodies as substrates and signals in mammalian tissues. Physiol Rev 60:143-187
    • (1980) Physiol Rev , vol.60 , pp. 143-187
    • Robinson, A.M.1    Williamson, D.H.2
  • 14
    • 0035542983 scopus 로고    scopus 로고
    • Oligodendrocytes use lactate as a source of energy and as a precursor of lipids
    • Sanchez-Abarca LI, Tabernero A, Medina JM (2001) Oligodendrocytes use lactate as a source of energy and as a precursor of lipids. Glia 36:321-329
    • (2001) Glia , vol.36 , pp. 321-329
    • Sanchez-Abarca, L.I.1    Tabernero, A.2    Medina, J.M.3
  • 16
    • 84895227723 scopus 로고    scopus 로고
    • Clinical approach to inherited metabolic diseases
    • Fernandes J, Saudubray JM, van den Berghe G (eds). Springer-Verlag Berlin Heidelberg New York
    • Saudubray JM, Ogier de Baulny H, Charpentier C (2000) Clinical approach to inherited metabolic diseases. In: Fernandes J, Saudubray JM, van den Berghe G (eds) Inborn metabolic diseases. Diagnosis and treatment. Springer-Verlag Berlin Heidelberg New York, pp 3-41
    • (2000) Inborn Metabolic Diseases. Diagnosis and Treatment , pp. 3-41
    • Saudubray, J.M.1    Ogier De Baulny, H.2    Charpentier, C.3
  • 18
    • 0034865493 scopus 로고    scopus 로고
    • Evaluation of newborn screening for medium-chain acyl-CoA dehydrogenase deficiency in 275,000 babies
    • Carpenter K, Wiley V, Sim KG, Heath D, Wilken B (2001) Evaluation of newborn screening for medium-chain acyl-CoA dehydrogenase deficiency in 275,000 babies. Arch Dis Child (Fetal Neonatal Ed) 85:105-109
    • (2001) Arch Dis Child (Fetal Neonatal Ed) , vol.85 , pp. 105-109
    • Carpenter, K.1    Wiley, V.2    Sim, K.G.3    Heath, D.4    Wilken, B.5
  • 19
    • 0028899006 scopus 로고
    • Medium-chain acyl-Coa dehydrogenase deficiency in Pennsylvania: Neonatal screening shows high incidence and unexpected mutation frequencies
    • Ziadeh R, Hoffman EP, Finegod DN, Hoop RC, Brackett JC, Strauss AW, Naylor EW (1995) Medium-chain acyl-Coa dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies. Pediatr Res 37:675-678
    • (1995) Pediatr Res , vol.37 , pp. 675-678
    • Ziadeh, R.1    Hoffman, E.P.2    Finegod, D.N.3    Hoop, R.C.4    Brackett, J.C.5    Strauss, A.W.6    Naylor, E.W.7
  • 20
    • 0028265830 scopus 로고
    • Medium-chain acyl-CoA dehydrogenase deficiency: Clinical course in 120 affected children
    • Iafolla AK, Thompson RJ, Roe CR (1994) Medium-chain acyl-CoA dehydrogenase deficiency: clinical course in120 affected children. J Pediatr 124:409-415
    • (1994) J Pediatr , vol.124 , pp. 409-415
    • Iafolla, A.K.1    Thompson, R.J.2    Roe, C.R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.