Acyl-CoA dehydrogenase deficiency: varieties with neurological involvement
2007; Wiley; Volume: 47; Issue: 3 Linguagem: Inglês
10.1111/j.1469-8749.2005.tb01119.x
ISSN1469-8749
Autores Tópico(s)Folate and B Vitamins Research
ResumoDevelopmental Medicine & Child NeurologyVolume 47, Issue 3 p. 207-210 Free Access Acyl-CoA dehydrogenase deficiency: varieties with neurological involvement Neil Gordon MD, Corresponding Author Neil Gordon MD FRCP Hon FRCPCH, Huntlywood, 3 Styal Road, Wilmslow, SK9 4AE, UK.Correspondence to author at above address. E-mail: [email protected]Search for more papers by this author Neil Gordon MD, Corresponding Author Neil Gordon MD FRCP Hon FRCPCH, Huntlywood, 3 Styal Road, Wilmslow, SK9 4AE, UK.Correspondence to author at above address. E-mail: [email protected]Search for more papers by this author First published: 13 February 2007 https://doi.org/10.1111/j.1469-8749.2005.tb01119.xAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat References 1 Seidel J., Streck S., Bellstedt K., Vianey-Saban C., Pedersen CB., Vockley J., Korall H., Roskos M., Deufel T., Trefz KF., Sewell AC., Kauf E., Zintl F., Lehnert W., Gregersen N. (2003) Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-CoA dehydrogenase gene. J Inherit Metab Dis 26: 37–42. 10.1023/A:1024019311933 CASPubMedWeb of Science®Google Scholar 2 Bhala A., Willi SM., Rinaldo P., Bennett MJ., Schmidt-Sommerfeld E., Hale DE. (1995) Clinical and biochemical characterization of short-chain acyl-CoA dehydrogenase deficiency. J Pediatr 126: 910–915. 10.1016/S0022-3476(95)70207-5 CASPubMedWeb of Science®Google Scholar 3 Bok LA., Vreken P., Wijburg FA., Wanders RJA., Gregersen N., Corydon MJ., Waterham HR., Duran M. (2003) Short-chain acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder. Pediatrics 112: 1152–1155. 10.1542/peds.112.5.1152 PubMedWeb of Science®Google Scholar 4 Birkebaek N., Simonsen H., Gregersen N. (2002) Hypoglycaemia and elevated urine ethylmalonic acid in a child homozygous for the short-chain acyl-CoA dehydrogenase 625G > A gene variation. Acta Paediatr 91: 480–486. 10.1080/080352502317371751 CASPubMedWeb of Science®Google Scholar 5 Negan N., Kruckeberg KE., Tauscher AL., Baily KS., Rinaldo P., Matern D. (2003) The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C4-acylcarnitine concentration in newborn blood spots. Mol Genet Metab 78: 239–246. 10.1016/S1096-7192(03)00034-9 CASPubMedWeb of Science®Google Scholar 6 Matern D., He M., Berry SA., Rinaldo P., Whitley CB., Madsen PP., van Calcar SC., Lussky RC., Andersen BS., Wolff JA., Vockley J. (2003) Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry. Pediatrics 112: 74–78. 10.1542/peds.112.1.74 PubMedWeb of Science®Google Scholar 7 Kairomkanda V., Dalzall M., Losty PD., Davidson D. (2003) Perforated duodenal ulcer disclosing medium chain acyl-CoA dehydrogenase deficiency. Arch Dis Child 88: 88–89.(Letter). 10.1136/adc.88.1.88-a Web of Science®Google Scholar 8 Pourfarzam M., Morris, A., Apple ton, M., Craft A., Bartlett K. (2001) Neonatal screening for medium-chain acyl-CoA dehydrogenace deficiency. Lancet 358: 1063–1064. 10.1016/S0140-6736(01)06199-2 CASPubMedWeb of Science®Google Scholar 9 Albers S., Levy HL., Irons M., Strauss AW., Marsden D. (2001) Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab 24: 417–418. 10.1023/A:1010533408635 CASPubMedWeb of Science®Google Scholar 10 Seddon HR., Green A., Gray RGF., Leonard JV., Pollitt RJ. (1994) Regional variations in medium-chain acyl-CoA dehydrogenase deficiency. Lancet 345: 135–136. 10.1016/S0140-6736(95)90105-1 CASWeb of Science®Google Scholar 11 Boles RG. (2002) Very long-chain acyl-CoA dehydrogenase deficiency in an infant presenting with massive hepatomegaly. J Inherit Metab 25: 315–316. 10.1023/A:1016554409214 CASPubMedWeb of Science®Google Scholar 12 Mathur A., Sims HF., Gopalakrishnan D., Gibson B., Rinaldo P., Vockley J., Hug G., Strauss AW. (1999) Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death. Circulation 99: 1337–1343. 10.1161/01.CIR.99.10.1337 CASPubMedWeb of Science®Google Scholar 13 Yoon H.-R., Strauss AW., You H.-W. (2001) Sudden death in a Korean infant with very long-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 24: 407–408. 10.1023/A:1010521105909 CASPubMedWeb of Science®Google Scholar 14 Parini R., Menni F., Garavaglia B., Fesslova V., Melloti D., Massone ML., Lamantea E., Rimoldi M., Vizziello P., Gatti R. (1998) Acute, severe cardiomyopathy as main symptom of late-onset very long-chain acyl-coenzyme A dehydrogenase deficiency. Eur J Pediatr 157: 992–995. 10.1007/s004310050984 CASPubMedWeb of Science®Google Scholar 15 Bonnet D., Martin D., de Lonlay P., Villain E., Jouvet P., Rabier D., Brivet M., Saudubray J.-M. (1999) Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children. Circulation 100: 2248–2253. 10.1161/01.CIR.100.22.2248 CASPubMedWeb of Science®Google Scholar 16 Spiekerkoetter U., Zytkovicz T., Wanders R., Strauss AW., Wendel U. (2003) MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-COA dehydrogenase deficiency. J Pediatr 143: 335–342. 10.1067/S0022-3476(03)00292-0 PubMedWeb of Science®Google Scholar 17 Hamano H., Shinohara Y., Takizawa S., Tokuoka K., Kazahari S., Mandokoro H., Sato A. (2003) Very-long-chain acyl-CoA dehydrogenase deficiency presenting with recurrent rhabdomyolysis in an adult. Clinica Neurol 43: 253–257. PubMedGoogle Scholar 18 Gordon N. (2003) Glycogenosis type V or McArdle's disease. Dev Med Child Neurol 45: 640–644. 10.1111/j.1469-8749.2003.tb00971.x CASPubMedWeb of Science®Google Scholar 19 Straussberg R., Strauss AW. (2002) A novel mutation of late-onset very-long-chain acyl-CoA dehydrogenase deficiency. Pediatr Neurol 27: 136–137. 10.1016/S0887-8994(02)00404-6 PubMedWeb of Science®Google Scholar 20 Fukao T., Watanabe H., Orii KE., Takahashi Y., Hirano A., Kondo T., Yamaguchi S., Aoyama T., Kondo N. (2001) Myopathic form of very-long chain acyl-CoA dehydrogenase deficiency: evidence for temperature-sensitive mild mutations in both mutant alleles in a Japanese girl. Pediatr Res 49: 227–231. 10.1203/00006450-200102000-00016 CASPubMedWeb of Science®Google Scholar 21 Takusa Y., Fukao T., Kimura M., Uchiyama A., Abo W., Tsuboi Y., Hirose S., Fujioka H., Kondo N., Yamaguchi S. (2002) Identification and characterization of temperature-sensitive mild mutations in three Japanese patients with nonsevere forms of very-long-chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab 75: 227–234. 10.1006/mgme.2002.3297 CASPubMedWeb of Science®Google Scholar 22 Ito Y., Nakano K., Shishikuru K., Suzuki H., Iida N., Sasaki N., Kimura M., Hasegawa Y., Yamaguchi S., Osawa M. (2003) A two-year-old infant with a myopathic form of very-long-chain acyl-CoA dehydrogenase deficiency. No To Hattatsu 35: 491–497.(In Japanese). PubMedGoogle Scholar 23 Van Hove JLK., Grüewald S., Jaeken J., Demaerel P., Bourdoux P., Niezen-Koning K., Deanfeld JE., Leonard JV. (2003) D,L-3-hydroxybutyrate treatment of multiple acyl-CoA dehydrogenase deficiency. Lancet 361: 1433–1435. 10.1016/S0140-6736(03)13105-4 CASPubMedWeb of Science®Google Scholar 24 Olsen RKJ., Andresen BS., Christensen E., Bross P., Skovby F., Gregerse N. (2003) Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenase deficiency. Hum Mutat 22: 12–23. 10.1002/humu.10226 CASPubMedWeb of Science®Google Scholar 25 Chisholm CA., Vavelidis F., Lovell MA., Sweetman L., Roe CR., Roe DS., Frerman FF., Wilson WG. (2001) Prenatal diagnosis of multiple acyl-CoA dehydogenase defiency: association with elevated alpha-fetoprotein and cystic renal changes. Prenat Diagn 21: 856–859. 10.1002/pd.157 CASPubMedWeb of Science®Google Scholar 26 Amendt BA., Greene C., Sweetman L., Cloherty J., Shih V., Moon A., Teel L., Rhead WJ. (1987) Short-chain acyl-Coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients. J Clin Invest 79: 1303–1309. 10.1172/JCI112953 CASPubMedWeb of Science®Google Scholar 27 Gibson KM., Burlingame TG., Hogema B., Jakobs C., Schutgens RBH., Millington D., Roe CR., Sweetman L., Steiner RD., Link L., Pohowalla P., Sacks M., Kiss D., Rinaldo P., Vockley J. (2000) 2 -methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism. Pediatr Res 47: 830–833. 10.1203/00006450-200006000-00025 CASPubMedWeb of Science®Google Scholar 28 Andresen BS., Christensen E., Corydon TJ., Brose P., Pilgaard B., Wanders RJA., Ruiter JPN., Simonsen H., Winter V., Knudsen I., Schroeder LD., Gregersen N., Skovby F. (2000) Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism. Am J Hum Genet 67: 1095–1103. 10.1086/303105 CASPubMedWeb of Science®Google Scholar 29 Pollitt RJ., Leonard JV. (1998) Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK. Arch Dis Child 79: 116–119. 10.1136/adc.79.2.116 CASPubMedWeb of Science®Google Scholar 30 Venditti LN., Venditti CP., Berry GT., Kaplan PB., Kaye EM., Glick H., Stanley CA. (2003) Newborn screening by tandem mass spectrometry for medium-chain acyl-CoA dehydrogenase deficiency: a cost-effective analysis. Pediatrics 112: 1005–1015. 10.1542/peds.112.5.1005 PubMedWeb of Science®Google Scholar 31 Schulze A., Lindner M., Kohlmüller D., Olgemöller K., Mayatapek E., Hoffmann GF. (2003) Expanded newborn screening for inborn errors of metabolism by electrospray ionisation-tandem mass spectrometry: results, outcome, and implications. Pediatrics 111: 1399–1406. 10.1542/peds.111.6.1399 PubMedWeb of Science®Google Scholar 32 Wicken B., Carpenter K., Wiley V. (2002) Neonatal screening for medium-chain acyl-Co-A dehydrogenase deficiency. Lancet 359: 627–628.(Letter). 10.1016/S0140-6736(02)07730-9 Web of Science®Google Scholar 33 Carpenter K., Wiley V., Sim KG., Heath D., Wilcken B. (2001) Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275000 babies. Arch Dis Child Fetal Neonatal Edn 85: F105–109. 10.1136/fn.85.2.F105 CASPubMedWeb of Science®Google Scholar 34 Wilcox RI., Nelson CC., Stenzel P., Steiner RD. (2002) Postmortem screening for fatty acid oxidation disorders by analysis of Guthrie cards with tandem mass spectrometry in sudden unexpected death in infancy. J Pediatr 141: 833–836. 10.1067/mpd.2002.130259 CASPubMedWeb of Science®Google Scholar 35 Fowler DJ., Picker J., Waisbren SE., Levy HL. (2002) Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency. Lancet 359: 628. (Letter). 10.1016/S0140-6736(02)07731-0 PubMedWeb of Science®Google Scholar 36 Marsden D., Nyhan WL., Barshop BA. (2001) Creatine kinase and uric acid: early warning for metabolic imbalance resulting from disorders of fatty acid oxidation. Eur J Pediatr 160: 599–602. 10.1007/s004310100808 CASPubMedWeb of Science®Google Scholar 37 Young SP., Matern D., Gregersen N., Stevens RD., Bali D., Liu H.-M., Koeberl DD., Millington DS. (2003) A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency. Clin Chim Acta 337: 103–113. 10.1016/j.cccn.2003.07.006 CASPubMedWeb of Science®Google Scholar 38 Solis JO., Singh RH. (2002) Management of fatty acid oxidation disorders: a survey of current treatment strategies. J Am Diet Assoc 102: 1800–1806. 10.1016/S0002-8223(02)90386-X PubMedWeb of Science®Google Scholar 39 Roe CR., Sweetman L., Roe DS., David F., Brunengraber H. (2002) Treatment of cardioymyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride. J Clin Invest 110: 259–269. 10.1172/JCI0215311 CASPubMedWeb of Science®Google Scholar 40 Gregersen N., Andresen BS., Corydon MJ., Corydon TJ., Olsen RKJ., Bolund L., Bross P. (2001) Mutation analysis in mitochondrial fatty acid oxidation defects: exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationships. Hum Mutat 18: 169–189. 10.1002/humu.1174 CASPubMedWeb of Science®Google Scholar 41 Wilson CJ., Champion MP., Collins JE., Claton PT., Leonard JV. (1990) Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis. Arch Dis Child 80: 159–162. Google Scholar 42 Gregersen N., Bross P., Andresen BS. (2004) Genetic defects in fatty acid β-oxidation and acyl-CoA dehydrogenases. Molecular pathogenesis and genotype-phenotype relationships. Eur J Biochem 271: 470–482. 10.1046/j.1432-1033.2003.03949.x CASPubMedWeb of Science®Google Scholar Volume47, Issue3March 2005Pages 207-210 ReferencesRelatedInformation
Referência(s)