Glutaric Acidemia Type 1 (2024)

  • Badve MS, Bhuta S, Mcgill J. Rare presentation of a treatable disorder: glutaric aciduria type 1. N Z Med J. 2015;128:61–4. [PubMed: 25721963]

  • Baradaran M, Galehdari M, Aminzadeh M, Azizi Malmiri R, Tangestani R, Karimi Z. Molecular determination of glutaric aciduria type I in individuals from southwest Iran. Arch Iran Med. 2014;17:629–32. [PubMed: 25204480]

  • Baric I, Wagner L, Feyh P, Liesert M, Buckel W, Hoffmann GF. Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurements by stable-isotope dilution assays for the diagnosis of glutaric aciduria type I. J Inherit Metab Dis. 1999;22:867–81. [PubMed: 10604139]

  • Basinger AA, Booker JK, Frazier DM, Koeberl DD, Sullivan JA, Muenzer J. Glutaric academia type 1 in patients of Lumbee heritage from North Carolina. Mol Genet Metab. 2006;88:90–2. [PubMed: 16466958]

  • Bjugstad KB, Goodman SI, Freed CR. Age at symptom onset predicts severity of motor impairment and clinical onset of glutaric aciduria type I. J Pediatr. 2000;137:681–6. [PubMed: 11060535]

  • Boy N, Garbade SF, Heringer J, Seitz A, Kölker S, Harting I. Patterns, evolution, and severity of striatal injury in insidious-vs acute-onset glutaric aciduria type 1. J Inherit Metab Dis. 2019;42:117–27. [PubMed: 30740735]

  • Boy N, Haege G, Heringer J, Assmann B, Mühlhausen C, Ensenauer R, Maier EM, Lücke T, Hoffmann GF, Müller E, Burgard P, Kölker S. Low lysine diet in glutaric aciduria type I--effect on anthropometric and biochemical follow-up parameters. J Inherit Metab Dis. 2013;36:525–33. [PubMed: 22971958]

  • Boy N, Heringer J, Brackmann R, Bodamer O, Seitz A, Kölker S, Harting I. Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity. Orphanet J Rare Dis. 2017a;12:77. [PMC free article: PMC5402644] [PubMed: 28438223]

  • Boy N, Mengler K, Thimm E, Schiergens KA, Marquardt T, Weinhold N, Marquardt I, 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: a disease-changing intervention for glutaric aciduria type 1. Ann Neurol. 2018;83:970–9. [PubMed: 29665094]

  • 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, et al. Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision. J Inherit Metab Dis. 2017b;40:75–101. [PubMed: 27853989]

  • Bross P, Frederiksen JB, Bie AS, Hansen J, Palmfeldt J, Nielsen MN, Duno M, Lund AM, Christensen E. Heterozygosity for an in-frame deletion causes glutaryl-CoA dehydrogenase deficiency in a patient detected by newborn screening: investigation of the effect of the mutant allele. J Inherit Metab Dis. 2012;35:787–96. [PubMed: 22231382]

  • Burlina AP, Danieli D, Malfa F, Manara R, Del Rizzo M, Bordugo A, Burlina AB. Glutaric aciduria type I and glioma: the first report in a young adult patient. J Inherit Metab Dis. 2012;35:S58.

  • Busquets C, Merinero B, Christensen E, Gelpí JL, Campistol J, Pineda M, Fernández-Alvarez E, Prats JM, Sans A, Arteaga R, Martí M, Campos J, Martínez-Pardo M, Martínez-Bermejo A, Ruiz-Falcó ML, Vaquerizo J, Orozco M, Ugarte M, Coll MJ, Ribes A. Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically and biochemically distinct. Pediatr Res. 2000a;48:315–22. [PubMed: 10960496]

  • Busquets C, Soriano M, de Almeida IT, Garavaglia B, Rimoldi M, Rivera I, Uziel G, Cabral A, Coll MJ, Ribes A. Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type I. Mol Genet Metab. 2000b;71:535–7. [PubMed: 11073722]

  • Chace DH, Kalas TA, Naylor EW. Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns. Clin Chem. 2003;49:1797–1817. [PubMed: 14578311]

  • Christensen E, Ribes A, Busquets C, Pineda M, Duran M, Poll-The BT, Greenberg CR, Leffers H, Schwartz M. Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion. J Inherit Metab Dis. 1997;20:383–6. [PubMed: 9266361]

  • Christensen E, Ribes A, Merinero B, Zschocke J. Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 2004;27:861–8. [PubMed: 15505393]

  • Couce ML, López-Suárez O, Bóveda MD, Castiñeiras DE, Cocho JA, García-Villoria J, Castro-Gago M, Fraga JM, Ribes A. Glutaric aciduria type I: outcome of patients with early- versus late-diagnosis. Eur J Paediatr Neurol. 2013;17:383–9. [PubMed: 23395213]

  • Fraidakis MJ, Liadinioti C, Stefanis L, Dinopoulos A, Pons R, Papathanassiou M, Garcia-Villoria J, Ribes A. Rare late-onset presentation of glutaric aciduria type I in a 16-year-old woman with a novel GCDH mutation. JIMD Rep. 2015;18:85–92. [PMC free article: PMC4361931] [PubMed: 25256449]

  • Fu Z, Wang M, Paschke R, Rao KS, Frerman FE, Kim JJ. Crystal structures of human glutaryl-CoA dehydrogenase with and without an alternate substrate: structural bases of dehydrogenation and decarboxylation reactions. Biochemistry. 2004;43:9674–84. [PubMed: 15274622]

  • Garcia P, Martins E, Diogo L, Rocha H, Marcão A, Gaspar E, Almeida M, Vaz C, Soares I, Barbot C, Vilarinho L. Outcome of three cases of untreated maternal glutaric aciduria type I. Eur J Pediatr. 2008;167:569–73. [PubMed: 17661081]

  • Gerards M, Sallevelt SC, Smeets HJ. Leigh syndrome: resolving the clinical and genetic heterogeneity paves the way for treatment options. Mol Genet Metab. 2016;117:300–12. [PubMed: 26725255]

  • Goodman SI, Kohlhoff JG. Glutaric aciduria: inherited deficiency of glutaryl-CoA dehydrogenase activity. Biochem Med. 1975;13:138–40. [PubMed: 1191271]

  • Goodman SI, Kratz LE, DiGiulio KA, Biery BJ, Goodman KE, Isaya G, Frerman FE. Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli. Hum Molec Genet. 1995;4:1493–8. [PubMed: 8541831]

  • Goodman SI, Markey SP, Moe PG, Miles BS, Teng CC. Glutaric aciduria; a "new" disorder of amino acid metabolism. Biochem Med. 1975;12:12–21. [PubMed: 1137568]

  • Goodman SI, Stein DE, Schlesinger S, Christensen E, Schwartz M, Greenberg CR, Elpeleg ON. Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (Type I): review and report of thirty novel mutations. Hum Mutat. 1998;12:141–4. [PubMed: 9711871]

  • Greenberg CR, Prasad AN, Dilling LA, Thompson JR, Haworth JC, Martin B, Wood-Steiman P, Seargeant LE, Seifert B, Booth FA, Prasad C. Outcome of the first 3-years of a DNA-based neonatal screening program for glutaric acidemia type 1 in Manitoba and northwestern Ontario, Canada. Mol Genet Metab. 2002;75:70–8. [PubMed: 11825066]

  • Greenberg CR, Reimer D, Singal R, Triggs-Raine B, Chudley AE, Dilling LA, Philipps S, Haworth JC, Seargeant LE, Goodman SI. A G-to-T transversion at the +5 position of intron 1 in the glutaryl CoA dehydrogenase gene is associated with the Island Lake variant of glutaric acidemia type I. Hum Mol Genet. 1995;4:493–5. [PubMed: 7795610]

  • Gupta N, Singh PK, Kumar M, Shastri S, Gulati S, Kumar A, Agarwala A, Kapoor S, Nair M, Sapra S, Dubey S, Singh A, Kaur P, Kabra M. Glutaric acidemia type 1 - clinico-molecular profile and novel mutations in GCDH gene in Indian patients. JIMD Rep. 2015;21:45–55. [PMC free article: PMC4470956] [PubMed: 25762492]

  • Heringer J, Boy SPN, Ensenauer R, Assmann B, Zschocke J, Harting I, Lücke T, Maier EM, Mühlhausen C, Haege G, Hoffmann GF, Burgard P, Kölker S. Use of guidelines improves the neurological outcome in glutaric aciduria type I. Ann Neurol. 2010;68:743–52. [PubMed: 21031586]

  • Herskovitz M, Goldsher D, Sela BA, Mandel H. Subependymal mass lesions and peripheral polyneuropathy in adult-onset glutaric aciduria type I. Neurology. 2013;81:849–50. [PubMed: 23884036]

  • Hoffmann GF, Athanassopoulos S, Burlina AB, Duran M, de Klerk JB, Lehnert W, Leonard JV, Monavari AA, Müller E, Muntau AC, Naughten ER, Plecko-Starting B, Superti-Furga A, Zschocke J, Christensen E. Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatrics. 1996;27:115–23. [PubMed: 8837070]

  • Hoffmann GF, Trefz FK, Barth PG, Böhles HJ, Biggemann B, Bremer HJ, Christensen E, Frosch M, Hanefeld F, Hunneman DH, et al. Glutaryl-coenzyme A dehydrogenase deficiency: a distinct encephalopathy. Pediatrics. 1991;88:1194–203. [PubMed: 1956737]

  • Ishige M, Fuchigami T, Ogawa E, Usui H, Kohira R, Watanabe Y, Takahashi S. Severe acute subdural hemorrhages in a patient with glutaric acidemia type 1 under recommended treatment. Pediatr Neurosurg. 2017;52:46–50. [PubMed: 27721316]

  • Ituk US, Allen TK, Habib AS. The peripartum management of a patient with glutaric aciduria type 1. J Clin Anesth. 2013;25:141–5. [PubMed: 23352788]

  • Jamuar SS, Newton SA, Prabhu SP, Hecht L, Costas KC, Wessel AE, Harris DJ, Anselm I, Berry GT. Rhabdomyolysis, acute renal failure, and cardiac arrest secondary to status dystonicus in a child with glutaric aciduria type I. Mol Genet Metab. 2012;106:488–90. [PubMed: 22771013]

  • Kamate M, Patil V, Chetal V, Darak P, Hattiholi V. Glutaric aciduria type I: a treatable neurometabolic disorder. Ann Indian Acad Neurol. 2012;15:31–4. [PMC free article: PMC3299068] [PubMed: 22412270]

  • 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 Genet Metab. 2012;107:72–80. [PubMed: 22520952]

  • Kölker S, Christensen E, Leonard JV. Diagnosis and management of glutaric aciduria type I–revised recommendations. J Inherit Metab Dis. 2011;34:677–94. [PMC free article: PMC3109243] [PubMed: 21431622]

  • Kölker S, Garbade S, 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 treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency. Pediatr Res. 2006;59:840–7. [PubMed: 16641220]

  • Kölker S, Garbade SF, Boy N, Maier EM, Meissner T, Mühlhausen C, Hennermann JB, Lücke T, Häberle J, Baumkötter J, Haller W, Muller E, Zschocke J, Burgard P, Hoffmann GF. Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by neonatal screening in Germany. Pediatr Res. 2007;62:357–63. [PubMed: 17622945]

  • Kölker S, Garcia-Cazorla A, Valayannopoulos V, Lund AM, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. J Inherit Metab Dis. 2015a;38:1041–57. [PubMed: 25875215]

  • Kölker S, Valayannopoulos V, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Boy SP, Rasmussen MB, Burgard P, Chabrol B, Chakrapani A, Chapman K, Cortès I, Saladelafont E, Couce ML, de Meirleir L, Dobbelaere D, Furlan F, Gleich F, González MJ, Gradowska W, Grünewald S, Honzik T, Hörster F, Ioannou H, Jalan A, Häberle J, Haege G, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, Murphy E, de Baulny HO, Ortez C, Pedrón CC, Pintos-Morell G, Pena-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Lund AM, Garcia-Cazorla A. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype. J Inherit Metab Dis. 2015b;38:1059–74. [PubMed: 25875216]

  • Korman SH, Jakobs C, Darmin PS, Gutman A, van der Knaap MS, Ben-Neriah Z, Dweikat I, Wexler ID, Salomons GS. Glutaric aciduria type 1: clinical, biochemical and molecular findings in patients from Israel. Eur J Paediatr Neurol. 2007;11:81–9. [PubMed: 17188916]

  • 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;64:2142–4. [PubMed: 15985591]

  • Kyllerman M, Skjeldal O, Christensen E, Hagberg G, Holme E, Lönnquist T, Skov L, Rotwelt T, von Döbeln U. Long-term follow-up, neurological outcome and survival rate in 28 Nordic patients with glutaric aciduria type 1. Eur J Paediatr Neurol. 2004;8:121–9. [PubMed: 15120683]

  • Kyllerman M, Steen G. Glutaric aciduria. A "common" metabolic disorder? Arch Fr Pediatr. 1980;37:279. [PubMed: 7406647]

  • Lee CS, Chien YH, Peng SF, Cheng PW, Chang LM, Huang AC, Hwu WL, Lee NC. Promising outcomes in glutaric aciduria type I patients detected by newborn screening. Metab Brain Dis. 2013;28:61–7. [PubMed: 23104440]

  • Lindner M, Kölker S, Schulze A, Christensen E, Greenberg CR, Hoffmann GF. Neonatal screening for glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 2004;27:851–9. [PubMed: 15505392]

  • Liu XM, Li R, Chen SZ, Sang Y, Chen J, Fan CH. Screening of inherited metabolic disorders in infants with infantile spasms. Cell Biochem Biophys. 2015;72:61–5. [PubMed: 25417060]

  • López-Laso E, García-Villoria J, Martín E, Duque P, Cano A, Ribes A. Classic and late-onset neurological disease in two siblings with glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 2007;30:979. [PubMed: 17957492]

  • Marti-Masso JF, Ruiz-Martínez J, Makarov V, López de Munain A, Gorostidi A, Bergareche A, Yoon S, Buxbaum JD, Paisán-Ruiz C. Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia. Hum Genet. 2012;131:435–42. [PubMed: 21912879]

  • McClelland VM, Bakalinova DB, Hendriksz C, Singh RP. Glutaric aciduria type1 presenting with epilepsy. Dev Med Child Neurol. 2009;51:235–9. [PubMed: 19260933]

  • Morton DH, Bennett MJ, Seargeant LE, Nichter CA, Kelley RI. Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania. Am J Med Genet. 1991;41:89–95. [PubMed: 1951469]

  • Müller E, Kölker S. Reduction of lysine intake while avoiding malnutrition–major goals and major problems in dietary treatment of glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 2004;27:903–10. [PubMed: 15505398]

  • Naughten ER, Mayne PD, Monavari AA, Goodman SI, Sulaiman G, Croke DT. Glutaric aciduria type I: outcome in the Republic of Ireland. J Inherit Metab Dis. 2004;27:917–20. [PubMed: 15505400]

  • Pierson TM, Nezhad M, Tremblay MA, Lewis R, Wong D, Salamon N, Sicotte N. Adult-onset glutaric aciduria type I presenting with white matter abnormalities and subependymal nodules. Neurogenetics. 2015;16:325–8. [PubMed: 26316201]

  • Schillaci LA, Greene CL, Strovel E, Rispoli-Joines J, Spector E, Woontner M, Scharer G, Enns GM, Gallagher R, Zinn AB, McCandless SE, Hoppel CL, Goodman SI, Bedoyan JK. The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excreters. Mol Genet Metab. 2016;119:50–6. [PubMed: 27397597]

  • Schmiesing J, Lohmöller B, Schweizer M, Tidow H, Gersting SW, Muntau AC, Braulke T, Mühlhausen C. Disease causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation and mitochondria architecture. Hum Mol Genet. 2017;26:538–51. [PubMed: 28062662]

  • Schwartz M, Christensen E, Superti-Furga A, Brandt NJ. The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I. Hum Genet. 1998;102:452–8. [PubMed: 9600243]

  • Serrano Russi A, Donoghue S, Boneh A, Manara R, Burlina AB, Burlina AP. Malignant brain tumors in patients with glutaric aciduria type I. Mol Genet Metab. 2018;125:276–80. [PubMed: 30217722]

  • Souci WS, Fachmann W, Kraut H. Food Composition and Nutrition Tables. 7 ed. Stuttgart, Germany: Wissenschaftliche Verlagsgesellschaft; 2008.

  • Stenson PD, Mort M, Ball EV, Chapman M, Evans K, Azevedo L, Hayden M, Heywood S, Millar DS, Phillips AD, Cooper DN. The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting. Hum Genet. 2020;139:1197–207. [PMC free article: PMC7497289] [PubMed: 32596782]

  • Stenson PD, Mort M, Ball EV, Shaw K, Phillips AD, Cooper DN. The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum Genet. 2014;133:1–9. [PMC free article: PMC3898141] [PubMed: 24077912]

  • Strauss KA, Brumbaugh J, Duffy A, Wardley B, Robinson D, Hendrickson C, Tortorelli S, Moser AB, Puffenberger EG, Rider NL, Morton DH. Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: focus on cerebral amino acid influx. Mol Genet Metab. 2011;104:93–106. [PubMed: 21820344]

  • Strauss KA, Lazovic J, Wintermark M, Morton DH. Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency. Brain. 2007;130:1905–20. [PubMed: 17478444]

  • Tp KV, Muntaj S, Devaraju KS, Kamate M, Vedamurthy AB. Genetic screening of selected disease-causing mutations in glutaryl-CoA dehydrogenase gene among Indian patients with glutaric aciduria yype I. J Pediatr Genet. 2017;6:142–8. [PMC free article: PMC5548524] [PubMed: 28794906]

  • Tsai FC, Lee HJ, Wang AG, Hsieh SC, Lu YH, Lee MC, Pai JS, Chu TH, Yang CF, Hsu TR, Lai CJ, Tsai MT, Ho PH, Lin MC, Cheng LY, Chuang YC, Niu DM. Experiences during newborn screening for glutaric aciduria type 1: diagnosis, treatment, genotype, phenotype, and outcomes. J Chin Med Assoc. 2017;80:253–61. [PubMed: 28302372]

  • van der Watt G, Owen EP, Berman P, Meldau S, Watermeyer N, Olpin SE, Manning NJ, Baumgarten I, Leisegang F, Henderson H. Glutaric aciduria type 1 in South Africa-high incidence of glutaryl-CoA dehydrogenase deficiency in black South Africans. Mol Genet Metab. 2010;101:178–82. [PubMed: 20732827]

  • Vester ME, Bilo RA, Karst WA, Daams JG, Duijst WL, van Rijn RR. Subdural hematomas: glutaric aciduria type 1 or abusive head trauma? A systematic review. Forensic Sci Med Pathol. 2015;11:405–15. [PMC free article: PMC4529472] [PubMed: 26219480]

  • Vester ME, Visser G, Wijburg F, van Spronsen FJ, Williams M, van Rijn RR. Occurrence of subdural hematomas in Dutch glutaric aciduria type 1 patients. Eur J Pediatr. 2016;175:1001–6. [PMC free article: PMC4908155] [PubMed: 27246831]

  • Viau K, Ernst SL, Vanzo RJ, Botto LD, Pasquali M, Longo N. Glutaric acidemia type 1: outcomes before and after expanded newborn screening. Mol Genet Metab. 2012;106:430–8. [PubMed: 22728054]

  • Wang Q, Li X, Ding Y, Liu Y, Song J, Yang Y. Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1. Brain Dev. 2014;36:813–22. [PubMed: 24332224]

  • Watson AR. Non-complicance and transfer from paediatric to adult transplant unit. Pediatr Nephrol. 2000;14:469–72. [PubMed: 10872185]

  • Yannicelli S, Rohr F, Warman ML. Nutrition support for glutaric acidemia type I. J Am Diet Assoc. 1994;94:183–8,191. [PubMed: 8300996]

  • Young-Lin N, Shalev S, Glenn OA, Gardner M, Lee C, Wynshaw-Boris A, Gelfand AA. Teaching neuroimages: infant with glutaric aciduria type 1 presenting with infantile spasms and hypsarrhythmia. Neurology. 2013;81:e182–3. [PMC free article: PMC3863345] [PubMed: 24323445]

  • Zhang X, Luo Q. Clinical and laboratory analysis of late-onset glutaric aciduria type I (GA-I) in Uighur: a report of two cases. Exp Ther Med. 2017;13:560–6. [PMC free article: PMC5348702] [PubMed: 28352331]

  • Zielonka M, Braun K, Bengel A, Seitz A, Kölker S, Boy N. Severe acute subdural hemorrhage in a patient with glutaric aciduria type I after minor head trauma: a case report. J Child Neurol. 2015;30:1065–9. [PubMed: 25038128]

  • Zschocke J, Quak E, Guldberg P, Hoffmann GF. Mutation analysis in glutaric aciduria type I. J Med Genet. 2000;2000;37:177–81. [PMC free article: PMC1734541] [PubMed: 10699052]

  • Glutaric Acidemia Type 1 (2024)
    Top Articles
    Latest Posts
    Article information

    Author: Dean Jakubowski Ret

    Last Updated:

    Views: 6390

    Rating: 5 / 5 (70 voted)

    Reviews: 93% of readers found this page helpful

    Author information

    Name: Dean Jakubowski Ret

    Birthday: 1996-05-10

    Address: Apt. 425 4346 Santiago Islands, Shariside, AK 38830-1874

    Phone: +96313309894162

    Job: Legacy Sales Designer

    Hobby: Baseball, Wood carving, Candle making, Jigsaw puzzles, Lacemaking, Parkour, Drawing

    Introduction: My name is Dean Jakubowski Ret, I am a enthusiastic, friendly, homely, handsome, zealous, brainy, elegant person who loves writing and wants to share my knowledge and understanding with you.