메뉴 건너뛰기




Volumn 30, Issue 1, 2015, Pages 96-99

Glutaric aciduria type II presenting as myopathy and rhabdomyolysis in a teenager

Author keywords

Glutaric aciduria type II; Multiple acyl Co A dehydrogenase deficiency; Myopathy; Rhabdomyolysis

Indexed keywords

ACICLOVIR; AMPICILLIN; CORTICOTROPIN; DEXAMETHASONE; FOSPHENYTOIN SODIUM; GENTAMICIN; HYDROCORTISONE; LORAZEPAM; PHENOBARBITAL; STEROID; ACYLCARNITINE; CARNITINE;

EID: 84920549473     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073813516676     Document Type: Article
Times cited : (11)

References (18)
  • 1
    • 0016898095 scopus 로고
    • Glutaric aciduria type II: Report on a previously undescribed metabolic disorder
    • Przyrembel H, Wendel U, Becker K, et al. Glutaric aciduria type II: report on a previously undescribed metabolic disorder. Clin Chim Acta. 1976;66:227-239.
    • (1976) Clin Chim Acta. , vol.66 , pp. 227-239
    • Przyrembel, H.1    Wendel, U.2    Becker, K.3
  • 2
    • 0003013226 scopus 로고    scopus 로고
    • Defects of electron transfer flavoprotein and electron transfer flavoprotein: Ubiquinone oxidoreductase: Glutaric aciduria type II
    • Scriver CR, Beaudet AL, Sly WS, Valle D, eds, New York: McGraw-Hill
    • Frerman FE, Goodman SI. Defects of electron transfer flavoprotein and electron transfer flavoprotein: ubiquinone oxidoreductase: glutaric aciduria type II. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Basis of Inherited Disease. 8th ed. New York: McGraw-Hill; 2001: 2357-2365.
    • (2001) The Metabolic and Molecular Basis of Inherited Disease. 8th Ed , pp. 2357-2365
    • Frerman, F.E.1    Goodman, S.I.2
  • 3
    • 33645967816 scopus 로고    scopus 로고
    • So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager
    • Beresford MW, Pourfarzam M, Turnbull DM, Davidson JE. So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager. Neuromusc Disord. 2006; 16:269-273.
    • (2006) Neuromusc Disord. , vol.16 , pp. 269-273
    • Beresford, M.W.1    Pourfarzam, M.2    Turnbull, D.M.3    Davidson, J.E.4
  • 4
    • 84883524809 scopus 로고    scopus 로고
    • Metabolic myopathies
    • Wortmann RL. Metabolic myopathies. Reumatología. 2002;18: 90-93.
    • (2002) Reumatología. , vol.18 , pp. 90-93
    • Wortmann, R.L.1
  • 5
    • 0016850495 scopus 로고
    • Polymyositis and dermatomyositis (first of two parts)
    • Bohan A, Peter JB. Polymyositis and dermatomyositis (first of two parts). N Engl J Med. 1975;292:344-347.
    • (1975) N Engl J Med. , vol.292 , pp. 344-347
    • Bohan, A.1    Peter, J.B.2
  • 6
    • 0034152434 scopus 로고    scopus 로고
    • Glutaric aciduria type II: Observations in seven patients with neonatal- and late-onset disease
    • Al-Essa MA, Rashed MS, Bakheet SM, Patay ZJ, Ozand PT. Glutaric aciduria type II: observations in seven patients with neonatal- and late-onset disease. J Perinatol. 2000;20:120-128.
    • (2000) J Perinatol. , vol.20 , pp. 120-128
    • Al-Essa, M.A.1    Rashed, M.S.2    Bakheet, S.M.3    Patay, Z.J.4    Ozand, P.T.5
  • 7
    • 0022639765 scopus 로고
    • Riboflavinresponsive lipid-storage myopathy and glutaric aciduria type II of early adult onset
    • DeVisser M, Scholte HR, Schutgens RB, et al. Riboflavinresponsive lipid-storage myopathy and glutaric aciduria type II of early adult onset. Neurology. 1986;36:367-372.
    • (1986) Neurology. , vol.36 , pp. 367-372
    • Devisser, M.1    Scholte, H.R.2    Schutgens, R.B.3
  • 8
    • 0018603668 scopus 로고
    • Recurrent hypoglycaemia associated with glutaric aciduria type II in an adult
    • Dusheiko G, Kew MC, Joffe BI, et al. Recurrent hypoglycaemia associated with glutaric aciduria type II in an adult. N Engl J Med. 1979;301:1405-1409.
    • (1979) N Engl J Med. , vol.301 , pp. 1405-1409
    • Dusheiko, G.1    Kew, M.C.2    Joffe, B.I.3
  • 9
    • 0034984956 scopus 로고    scopus 로고
    • Multiple acyl- CoA-dehydrogenase deficiency (MADD): Use of acylcarnitines and fatty acids to monitor the response to dietary treatment
    • Abdenur JE, Chamoles NA, Schenone AB, et al. Multiple acyl- CoA-dehydrogenase deficiency (MADD): use of acylcarnitines and fatty acids to monitor the response to dietary treatment. Pediatr Res. 2001;50:61-66.
    • (2001) Pediatr Res. , vol.50 , pp. 61-66
    • Abdenur, J.E.1    Chamoles, N.A.2    Schenone, A.B.3
  • 10
    • 34248171499 scopus 로고    scopus 로고
    • The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electrontransferring- flavoprotein dehydrogenase (ETF-DH) gene
    • Gempel K, Topaloglu H, Talim B, et al. The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electrontransferring- flavoprotein dehydrogenase (ETF-DH) gene. Brain. 2007;130:2037-2044.
    • (2007) Brain. , vol.130 , pp. 2037-2044
    • Gempel, K.1    Topaloglu, H.2    Talim, B.3
  • 11
    • 34547809952 scopus 로고    scopus 로고
    • ETF-DH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency
    • Olsen RK, Olpin SE, Andresen BS, et al. ETF-DH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain. 2007;130:2045-2054.
    • (2007) Brain. , vol.130 , pp. 2045-2054
    • Olsen, R.K.1    Olpin, S.E.2    Andresen, B.S.3
  • 12
    • 0021868819 scopus 로고
    • Riboflavin-responsive defects of beta-oxidation
    • Gregersen N. Riboflavin-responsive defects of beta-oxidation. J Inherit Metab Dis. 1985;8:65-69.
    • (1985) J Inherit Metab Dis. , vol.8 , pp. 65-69
    • Gregersen, N.1
  • 13
    • 0022606722 scopus 로고
    • Riboflavin responsive multiple acyl-CoA dehydrogenation deficiency: Assessment of 3 years of riboflavin treatment
    • Gregersen N, Christensen MF, Christensen E, Kolvraa S. Riboflavin responsive multiple acyl-CoA dehydrogenation deficiency: assessment of 3 years of riboflavin treatment. Acta Paediatr Scand. 1986;75:676-681.
    • (1986) Acta Paediatr Scand. , vol.75 , pp. 676-681
    • Gregersen, N.1    Christensen, M.F.2    Christensen, E.3    Kolvraa, S.4
  • 14
    • 0038046685 scopus 로고    scopus 로고
    • Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenase deficiency
    • Olsen RK, Andresen BS, Christensen E, et al. Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenase deficiency. Hum Mutat. 2003; 22:12-23.
    • (2003) Hum Mutat. , vol.22 , pp. 12-23
    • Olsen, R.K.1    Andresen, B.S.2    Christensen, E.3
  • 15
    • 0037388469 scopus 로고    scopus 로고
    • Late-onset form of electron transfer flavoprotein deficiency
    • Curoy A, Olsen RKJ, Ribes A, et al. Late-onset form of electron transfer flavoprotein deficiency. Mol Genet Metab. 2003;78: 247-249.
    • (2003) Mol Genet Metab. , vol.78 , pp. 247-249
    • Curoy, A.1    Olsen, R.K.J.2    Ribes, A.3
  • 16
    • 3042742542 scopus 로고    scopus 로고
    • Late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II) [in Chinese]
    • Liang Y, Liu L, Wei H, Luo XP, Wang MT. Late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II) [in Chinese]. Zhonghua Er Ke Za Zhi. 2003;41: 916-920.
    • (2003) Zhonghua Er Ke Za Zhi. , vol.41 , pp. 916-920
    • Liang, Y.1    Liu, L.2    Wei, H.3    Luo, X.P.4    Wang, M.T.5
  • 17
    • 84860403082 scopus 로고    scopus 로고
    • Developmental evolution in a patient with multiple acyl-coenzyme A dehydrogenase deficiency under pharmacological treatment
    • Rosa M, Pascarella A, Parenti G, et al. Developmental evolution in a patient with multiple acyl-coenzyme A dehydrogenase deficiency under pharmacological treatment. Eur J Paediatr Neurol. 2012;16:203-205.
    • (2012) Eur J Paediatr Neurol. , vol.16 , pp. 203-205
    • Rosa, M.1    Pascarella, A.2    Parenti, G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.