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Volumn 92, Issue 1-2, 2007, Pages 109-114

Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency

Author keywords

Electron transport flavoprotein; ETF:QO; Fatty acid oxidation; Glutaric aciduria type II; Multiple acyl CoA dehydrogenase deficiency; Riboflavin; Vitamin transport

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; ACYLCARNITINE; FATTY ACID; FLAVOPROTEIN; OXIDOREDUCTASE; RIBOFLAVIN; UBIQUINONE OXIDOREDUCTASE; UNCLASSIFIED DRUG;

EID: 34548472017     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2007.06.017     Document Type: Article
Times cited : (40)

References (38)
  • 1
    • 0003013226 scopus 로고    scopus 로고
    • Defects of electron transfer flavoprotein and electron transfer flavoprotein-ubiquinone oxidoreductase: glutaric acidemia typeII
    • Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds), Mc-Graw Hill, New York
    • Frerman F.E., and Goodman S.I. Defects of electron transfer flavoprotein and electron transfer flavoprotein-ubiquinone oxidoreductase: glutaric acidemia typeII. In: Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds). The Metabolic and Molecular Bases of Inherited Disease vol. 2 (2001), Mc-Graw Hill, New York 2357-2363
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , vol.2 , pp. 2357-2363
    • Frerman, F.E.1    Goodman, S.I.2
  • 2
    • 0036396930 scopus 로고    scopus 로고
    • Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene
    • Goodman S.I., Binard R.J., Woontner M.R., and Frerman F.E. Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene. Mol. Genet. Metab. 77 (2002) 86-90
    • (2002) Mol. Genet. Metab. , vol.77 , pp. 86-90
    • Goodman, S.I.1    Binard, R.J.2    Woontner, M.R.3    Frerman, F.E.4
  • 3
    • 0038046685 scopus 로고    scopus 로고
    • Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency
    • Olsen R.K., Andresen B.S., Christensen E., Bross P., Skovby F., and Gregersen N. Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. Hum. Mutat. 22 (2003) 12-23
    • (2003) Hum. Mutat. , vol.22 , pp. 12-23
    • Olsen, R.K.1    Andresen, B.S.2    Christensen, E.3    Bross, P.4    Skovby, F.5    Gregersen, N.6
  • 5
    • 33644662109 scopus 로고    scopus 로고
    • Glutaric aciduria types I and II
    • Gordon N. Glutaric aciduria types I and II. Brain Dev. 28 (2006) 136-140
    • (2006) Brain Dev. , vol.28 , pp. 136-140
    • Gordon, N.1
  • 6
    • 0021868819 scopus 로고
    • Riboflavin responsive defects of b-oxidation
    • Gregersen N. Riboflavin responsive defects of b-oxidation. J. Inherit. Metab. Dis. 8 (1985) 65-69
    • (1985) J. Inherit. Metab. Dis. , vol.8 , pp. 65-69
    • Gregersen, N.1
  • 9
    • 34547809952 scopus 로고    scopus 로고
    • R.K.J. Olsen, S.E. Olpin, B.S. Andresen, Z.H. Miedzybrodzka, M. Pourfarzam, B. Merinero, F.E. Frerman, M.W. Beresford, J.C.S. Dean, N. Cornelius, O. Andersen, A. Oldfors, E. Holme, N. Gregersen, D.M. Turnbull, A.A.M. Morris, ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency, Brain, (2007), in press (Epub ahead of print).
  • 10
    • 0036389795 scopus 로고    scopus 로고
    • Quantitative fibroblast acylcarnitine profiles in mitochondrial fatty acid beta-oxidation defects: phenotype/metabolite correlations
    • Giak S.K., Carpenter K., Hammond J., Christodoulou J., and Wilcken B. Quantitative fibroblast acylcarnitine profiles in mitochondrial fatty acid beta-oxidation defects: phenotype/metabolite correlations. Mol. Genet. Metab. 76 (2002) 327-334
    • (2002) Mol. Genet. Metab. , vol.76 , pp. 327-334
    • Giak, S.K.1    Carpenter, K.2    Hammond, J.3    Christodoulou, J.4    Wilcken, B.5
  • 11
    • 0027400923 scopus 로고
    • Multiple acyl-coenzyme A dehydrogenation disorder responsive to riboflavin: substrate oxidation, flavin metabolism, and flavoenzyme activities in fibroblasts
    • Rhead W., Roettger V., Marshall T., and Amendt B. Multiple acyl-coenzyme A dehydrogenation disorder responsive to riboflavin: substrate oxidation, flavin metabolism, and flavoenzyme activities in fibroblasts. Pediatr. Res. 33 (1993) 129-135
    • (1993) Pediatr. Res. , vol.33 , pp. 129-135
    • Rhead, W.1    Roettger, V.2    Marshall, T.3    Amendt, B.4
  • 12
    • 0031821935 scopus 로고    scopus 로고
    • Analysis of carnitine esters by radio-high performance liquid chromatography in cultured skin fibroblasts from patients with mitochondrial fatty acid oxidation disorders
    • Schmidt-Sommerfeld E., Bobrowski P.J., Penn D., Rhead W.J., Wanders R.J.A., and Bennett M.J. Analysis of carnitine esters by radio-high performance liquid chromatography in cultured skin fibroblasts from patients with mitochondrial fatty acid oxidation disorders. Pediatr. Res. 44 (1998) 210-214
    • (1998) Pediatr. Res. , vol.44 , pp. 210-214
    • Schmidt-Sommerfeld, E.1    Bobrowski, P.J.2    Penn, D.3    Rhead, W.J.4    Wanders, R.J.A.5    Bennett, M.J.6
  • 13
    • 0024284028 scopus 로고
    • Simple salting out procedure for extracting DNA from human nucleated cells
    • Miller S.A., Dykes D.D., and Polesky H.F.A. Simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acid Res. 16 (1988) 1215
    • (1988) Nucleic Acid Res. , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.A.3
  • 14
    • 0033990048 scopus 로고    scopus 로고
    • Primer3 on the WWW for general users and for biologist programmers
    • Krawetz S., and Misener S. (Eds), Humana Press, Totowa, NJ
    • Rozen S., and Skaletsky H.J. Primer3 on the WWW for general users and for biologist programmers. In: Krawetz S., and Misener S. (Eds). Bioinformatics Methods and Protocols: Methods in Molecular Biology (2000), Humana Press, Totowa, NJ 365-386
    • (2000) Bioinformatics Methods and Protocols: Methods in Molecular Biology , pp. 365-386
    • Rozen, S.1    Skaletsky, H.J.2
  • 15
    • 0017293933 scopus 로고
    • Evaluation of coenzyme activation of erythrocyte enzymes for detection of deficiency of vitamins B1, B2 and B6
    • Bayoumi R.A., and Rosalki S.B. Evaluation of coenzyme activation of erythrocyte enzymes for detection of deficiency of vitamins B1, B2 and B6. Clin. Chem. 22 (1976) 327-335
    • (1976) Clin. Chem. , vol.22 , pp. 327-335
    • Bayoumi, R.A.1    Rosalki, S.B.2
  • 16
    • 0030759186 scopus 로고    scopus 로고
    • Stridor as the major presenting symptom in riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency
    • Sperl W., Geiger R., Lehnert W., and Rhead W. Stridor as the major presenting symptom in riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Eur. J. Pediatr. 156 (1997) 800-802
    • (1997) Eur. J. Pediatr. , vol.156 , pp. 800-802
    • Sperl, W.1    Geiger, R.2    Lehnert, W.3    Rhead, W.4
  • 17
    • 33645967816 scopus 로고    scopus 로고
    • So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager
    • Beresford M.W., Pourfarzam M., Turnbull D.M., and Davidson J.E. So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager. Neuromusc. Disord. 16 (2006) 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
  • 18
    • 28844501008 scopus 로고    scopus 로고
    • The monocarboxylate transporter homolog Mch5p catalyzes riboflavin (vitamin B2) uptake in Saccharomyces cerevisiae
    • Reihl P., and Stolz R. The monocarboxylate transporter homolog Mch5p catalyzes riboflavin (vitamin B2) uptake in Saccharomyces cerevisiae. J. Biol. Chem. 280 (2005) 39809-39817
    • (2005) J. Biol. Chem. , vol.280 , pp. 39809-39817
    • Reihl, P.1    Stolz, R.2
  • 19
    • 0037336031 scopus 로고    scopus 로고
    • Crystal structure of human riboflavin kinase reveals a B barrel fold and a novel active site arch
    • Karthikeyan S., Zhou Q., Mseeh F., Grishin N.V., Osterman A.L., and Zhang H. Crystal structure of human riboflavin kinase reveals a B barrel fold and a novel active site arch. Structure 11 (2003) 265-273
    • (2003) Structure , vol.11 , pp. 265-273
    • Karthikeyan, S.1    Zhou, Q.2    Mseeh, F.3    Grishin, N.V.4    Osterman, A.L.5    Zhang, H.6
  • 22
    • 0027948406 scopus 로고
    • Late-onset riboflavin-responsive myopathy with combined multiple acyl coenzyme A dehydrogenase and respiratory chain enzyme deficiency
    • Antozzi C., Garavaglia B., Mora M., Rimoldi M., Morandi L., Ursino E., and DiDonato S. Late-onset riboflavin-responsive myopathy with combined multiple acyl coenzyme A dehydrogenase and respiratory chain enzyme deficiency. Neurology 44 (1994) 2153-2158
    • (1994) Neurology , vol.44 , pp. 2153-2158
    • Antozzi, C.1    Garavaglia, B.2    Mora, M.3    Rimoldi, M.4    Morandi, L.5    Ursino, E.6    DiDonato, S.7
  • 23
    • 0025885162 scopus 로고
    • Riboflavin responsive multiple acyl co-A dehydrogenase deficiency: functional evaluation of recovery after high dose vitamin supplementation
    • Peluchetti D., Antozzi C., Roi S., DiDonato S., and Cornelio F. Riboflavin responsive multiple acyl co-A dehydrogenase deficiency: functional evaluation of recovery after high dose vitamin supplementation. J. Neurol. Sci. 105 (1991) 93-98
    • (1991) J. Neurol. Sci. , vol.105 , pp. 93-98
    • Peluchetti, D.1    Antozzi, C.2    Roi, S.3    DiDonato, S.4    Cornelio, F.5
  • 25
    • 0019793332 scopus 로고
    • Riboflavin status in Gambian pregnant and lactating women and its implications for recommended daily allowances
    • Bates C.J., Prentice A.M., Paul A.A., Sutcliffe B.A., Watkinson M., and Whitehead R.G. Riboflavin status in Gambian pregnant and lactating women and its implications for recommended daily allowances. Am. J. Clin. Nutr. 34 (1981) 928-935
    • (1981) Am. J. Clin. Nutr. , vol.34 , pp. 928-935
    • Bates, C.J.1    Prentice, A.M.2    Paul, A.A.3    Sutcliffe, B.A.4    Watkinson, M.5    Whitehead, R.G.6
  • 26
    • 33745803057 scopus 로고    scopus 로고
    • Intestinal absorption of water soluble vitamins: an update
    • Said H., and Mohammed Z. Intestinal absorption of water soluble vitamins: an update. Curr. Opin. Gastroenterol. 22 (2006) 140-146
    • (2006) Curr. Opin. Gastroenterol. , vol.22 , pp. 140-146
    • Said, H.1    Mohammed, Z.2
  • 27
    • 0026462089 scopus 로고
    • The transport of thiamine, riboflavin and pyridoxal 5′-phosphate by human placenta
    • Zempleni J., Link G., and Kubler W. The transport of thiamine, riboflavin and pyridoxal 5′-phosphate by human placenta. Int. J. Vitam. Nutr. Res. 62 (1992) 165-172
    • (1992) Int. J. Vitam. Nutr. Res. , vol.62 , pp. 165-172
    • Zempleni, J.1    Link, G.2    Kubler, W.3
  • 28
    • 0034978262 scopus 로고    scopus 로고
    • Riboflavin uptake in human trophoblast-derived BeWo cell monolayers: cellular translocation and regulatory mechanisms
    • Huang S.-N., and Swaan P.W. Riboflavin uptake in human trophoblast-derived BeWo cell monolayers: cellular translocation and regulatory mechanisms. J. Pharm. Exp. Therap. 298 (2001) 264-271
    • (2001) J. Pharm. Exp. Therap. , vol.298 , pp. 264-271
    • Huang, S.-N.1    Swaan, P.W.2
  • 29
    • 0020613032 scopus 로고
    • Multiple acyl-coA dehydrogenase deficiency occurring in pregnancy and caused by a defect in riboflavin metabolism in the mother. Study of a kindred with seven deaths in infancy: value of riboflavin therapy in preventing this syndrome
    • Harpey J.P., Charpentier C., Goodman S.I., Darbois Y., Lefebre G., and Sebbah J. Multiple acyl-coA dehydrogenase deficiency occurring in pregnancy and caused by a defect in riboflavin metabolism in the mother. Study of a kindred with seven deaths in infancy: value of riboflavin therapy in preventing this syndrome. J. Pediatr. 103 (1983) 394-398
    • (1983) J. Pediatr. , vol.103 , pp. 394-398
    • Harpey, J.P.1    Charpentier, C.2    Goodman, S.I.3    Darbois, Y.4    Lefebre, G.5    Sebbah, J.6
  • 30
    • 0014574978 scopus 로고
    • The successful treatment of homocystinuria with pyridoxine
    • Barber G.W., and Spaeth G.L. The successful treatment of homocystinuria with pyridoxine. J. Pediatr. 75 (1969) 463-478
    • (1969) J. Pediatr. , vol.75 , pp. 463-478
    • Barber, G.W.1    Spaeth, G.L.2
  • 31
    • 0018897487 scopus 로고
    • Affinity of cystathionine beta-synthase for pyridoxal 5′ phosphate in cultured cells. A mechanism for pyridoxine-responsive homocystinuria
    • Lipson M.H., Kraus J., and Rosenberg L.E. Affinity of cystathionine beta-synthase for pyridoxal 5′ phosphate in cultured cells. A mechanism for pyridoxine-responsive homocystinuria. J. Clin. Invest. 66 (1980) 188-193
    • (1980) J. Clin. Invest. , vol.66 , pp. 188-193
    • Lipson, M.H.1    Kraus, J.2    Rosenberg, L.E.3
  • 32
    • 0018898271 scopus 로고
    • Inherited methylmalonyl CoA mutase apoenzyme deficiency in human fibroblasts: evidence for allelic heterogeneity, genetic compounds, and codominant expression
    • Willard H.F., and Rosenberg L.E. Inherited methylmalonyl CoA mutase apoenzyme deficiency in human fibroblasts: evidence for allelic heterogeneity, genetic compounds, and codominant expression. J. Clin. Invest. 65 (1980) 690-698
    • (1980) J. Clin. Invest. , vol.65 , pp. 690-698
    • Willard, H.F.1    Rosenberg, L.E.2
  • 33
    • 0026589933 scopus 로고
    • Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut-methylmalonic aciduria
    • Crane A.M., Jansen R., Andrews E.R., and Ledley F.D. Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut-methylmalonic aciduria. J. Clin. Invest. 89 (1992) 385-391
    • (1992) J. Clin. Invest. , vol.89 , pp. 385-391
    • Crane, A.M.1    Jansen, R.2    Andrews, E.R.3    Ledley, F.D.4
  • 34
    • 0036199911 scopus 로고    scopus 로고
    • High-dose vitamin therapy stimulates variant enzymes with decreased coenzyme binding affinity (increased Km): relevance to genetic disease and polymorphisms
    • Ames B., Schwab I., and Silver E. High-dose vitamin therapy stimulates variant enzymes with decreased coenzyme binding affinity (increased Km): relevance to genetic disease and polymorphisms. Am. J. Clin. Nutr. 75 (2002) 616-658
    • (2002) Am. J. Clin. Nutr. , vol.75 , pp. 616-658
    • Ames, B.1    Schwab, I.2    Silver, E.3
  • 35
    • 0019953516 scopus 로고
    • Multiple acyl co-A dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two newborn brothers
    • Bohm N., Uy J., KieBling M., and Lehnert W. Multiple acyl co-A dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two newborn brothers. Eur. J. Pediatr. 139 (1982) 60-65
    • (1982) Eur. J. Pediatr. , vol.139 , pp. 60-65
    • Bohm, N.1    Uy, J.2    KieBling, M.3    Lehnert, W.4
  • 36
    • 0020678009 scopus 로고
    • Glutaric acidemia type II; a form with deleterious intrauterine effects
    • Goodman S.I., Reale M., and Berlow S. Glutaric acidemia type II; a form with deleterious intrauterine effects. J. Pediatr. 102 (1983) 411-413
    • (1983) J. Pediatr. , vol.102 , pp. 411-413
    • Goodman, S.I.1    Reale, M.2    Berlow, S.3
  • 38
    • 0034152434 scopus 로고    scopus 로고
    • Glutaric aciduria type II: observations in 7 patients with neonatal and late-onset disease
    • Al-Essa M., Rashed M., Bakheet S., Patay Z., and Ozand P. Glutaric aciduria type II: observations in 7 patients with neonatal and late-onset disease. J. Perinatol. 2 (2000) 120-128
    • (2000) J. Perinatol. , vol.2 , pp. 120-128
    • Al-Essa, M.1    Rashed, M.2    Bakheet, S.3    Patay, Z.4    Ozand, P.5


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