Glutaric Acidemia Type I

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1		Camila Xu	+ 512 word(s)	512	2020-12-15 07:25:30

This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/glutaric-acidemia-type-i

Glutaric acidemia type I (also called glutaric aciduria type I) is an inherited disorder in which the body is unable to process certain proteins properly. It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids.

genetic conditions

References

Basinger AA, Booker JK, Frazier DM, Koeberl DD, Sullivan JA, Muenzer J.Glutaric acidemia type 1 in patients of Lumbee heritage from North Carolina. Mol Genet Metab. 2006 May;88(1):90-2.
Boy N, Mengler K, Thimm E, Schiergens KA, Marquardt T, Weinhold N, MarquardtI, Das AM, Freisinger P, Grünert SC, Vossbeck J, Steinfeld R, Baumgartner MR,Beblo S, Dieckmann A, Näke A, Lindner M, Heringer J, Hoffmann GF, Mühlhausen C,Maier EM, Ensenauer R, Garbade SF, Kölker S. Newborn screening: Adisease-changing intervention for glutaric aciduria type 1. Ann Neurol. 2018May;83(5):970-979. doi: 10.1002/ana.25233.
Boy N, Mühlhausen C, Maier EM, Heringer J, Assmann B, Burgard P, Dixon M,Fleissner S, Greenberg CR, Harting I, Hoffmann GF, Karall D, Koeller DM,Krawinkel MB, Okun JG, Opladen T, Posset R, Sahm K, Zschocke J, Kölker S;Additional individual contributors. Proposed recommendations for diagnosing andmanaging individuals with glutaric aciduria type I: second revision. J InheritMetab Dis. 2017 Jan;40(1):75-101. doi: 10.1007/s10545-016-9999-9.
Gerstner B, Gratopp A, Marcinkowski M, Sifringer M, Obladen M, Bührer C.Glutaric acid and its metabolites cause apoptosis in immature oligodendrocytes: anovel mechanism of white matter degeneration in glutaryl-CoA dehydrogenasedeficiency. Pediatr Res. 2005 Jun;57(6):771-6.
Guerreiro G, Faverzani J, Jacques CED, Marchetti DP, Sitta A, de Moura Coelho D, Kayser A, Kok F, Athayde L, Manfredini V, Wajner M, Vargas CR. Oxidativedamage in glutaric aciduria type I patients and the protective effects ofl-carnitine treatment. J Cell Biochem. 2018 Dec;119(12):10021-10032. doi:10.1002/jcb.27332.
Hedlund GL, Longo N, Pasquali M. Glutaric acidemia type 1. Am J Med Genet CSemin Med Genet. 2006 May 15;142C(2):86-94. Review.
Kölker S, Boy SP, Heringer J, Müller E, Maier EM, Ensenauer R, Mühlhausen C,Schlune A, Greenberg CR, Koeller DM, Hoffmann GF, Haege G, Burgard P.Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience. Mol GenetMetab. 2012 Sep;107(1-2):72-80. doi: 10.1016/j.ymgme.2012.03.021.
Kölker S, Garbade SF, Greenberg CR, Leonard JV, Saudubray JM, Ribes A,Kalkanoglu HS, Lund AM, Merinero B, Wajner M, Troncoso M, Williams M, Walter JH, Campistol J, Martí-Herrero M, Caswill M, Burlina AB, Lagler F, Maier EM, Schwahn B, Tokatli A, Dursun A, Coskun T, Chalmers RA, Koeller DM, Zschocke J,Christensen E, Burgard P, Hoffmann GF. Natural history, outcome, and treatmentefficacy in children and adults with glutaryl-CoA dehydrogenase deficiency.Pediatr Res. 2006 Jun;59(6):840-7.
Kölker S, Greenberg CR, Lindner M, Müller E, Naughten ER, Hoffmann GF.Emergency treatment in glutaryl-CoA dehydrogenase deficiency. J Inherit MetabDis. 2004;27(6):893-902. Review.
Kölker S, Koeller DM, Okun JG, Hoffmann GF. Pathomechanisms ofneurodegeneration in glutaryl-CoA dehydrogenase deficiency. Ann Neurol. 2004Jan;55(1):7-12. Review.
Külkens S, Harting I, Sauer S, Zschocke J, Hoffmann GF, Gruber S, Bodamer OA, Kölker S. Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency.Neurology. 2005 Jun 28;64(12):2142-4.
Lehnert W, Sass JO. Glutaconyl-CoA is the main toxic agent in glutaryl-CoAdehydrogenase deficiency (glutaric aciduria type I). Med Hypotheses.2005;65(2):330-3.
Lindner M, Kölker S, Schulze A, Christensen E, Greenberg CR, Hoffmann GF.Neonatal screening for glutaryl-CoA dehydrogenase deficiency. J Inherit MetabDis. 2004;27(6):851-9. Review.
Pokora P, Jezela-Stanek A, Różdżyńska-Świątkowska A, Jurkiewicz E, BogdańskaA, Szymańska E, Rokicki D, Ciara E, Rydzanicz M, Stawiński P, Płoski R,Tylki-Szymańska A. Mild phenotype of glutaric aciduria type 1 in polish patients - novel data from a group of 13 cases. Metab Brain Dis. 2019 Apr;34(2):641-649.doi: 10.1007/s11011-018-0357-5.
Screening, Technology and Research in Genetics
Shadmehri AA, Fattahi N, Pourreza MR, Koohiyan M, Zarifi S, Darbouy M, SharifiR, Tavakkoly Bazzaz J, Tabatabaiefar MA. Molecular genetic study of glutaricaciduria, type I: Identification of a novel mutation. J Cell Biochem. 2019Mar;120(3):3367-3372. doi: 10.1002/jcb.27607.
Strauss KA, Brumbaugh J, Duffy A, Wardley B, Robinson D, Hendrickson C,Tortorelli S, Moser AB, Puffenberger EG, Rider NL, Morton DH. Safety, efficacyand physiological actions of a lysine-free, arginine-rich formula to treatglutaryl-CoA dehydrogenase deficiency: focus on cerebral amino acid influx. MolGenet Metab. 2011 Sep-Oct;104(1-2):93-106. doi: 10.1016/j.ymgme.2011.07.003.
Strauss KA, Puffenberger EG, Robinson DL, Morton DH. Type I glutaric aciduria,part 1: natural history of 77 patients. Am J Med Genet C Semin Med Genet. 2003Aug 15;121C(1):38-52.
Wajner M, Kölker S, Souza DO, Hoffmann GF, de Mello CF. Modulation ofglutamatergic and GABAergic neurotransmission in glutaryl-CoA dehydrogenasedeficiency. J Inherit Metab Dis. 2004;27(6):825-8. Review.

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Subjects: Genetics & Heredity

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Update Date: 23 Dec 2020

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