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01-03-2013 | Original Paper

Promising outcomes in glutaric aciduria type I patients detected by newborn screening

Authors: Chee-Seng Lee, Yin-Hsiu Chien, Shinn-Forng Peng, Pin-Wen Cheng, Lih-Maan Chang, Ai-Chu Huang, Wuh-Liang Hwu, Ni-Chung Lee

Published in: Metabolic Brain Disease | Issue 1/2013

Abstract

Glutaric aciduria type I (GA-I) is an inborn error of lysine and tryptophan metabolism. Clinical manifestations of GA-I include dystonic or dyskinetic cerebral palsy, but when the symptoms occur, treatment is not effective. In Taiwan, newborn screening for GA-I started in 2001; we wish to evaluate the outcomes of patients detected through newborn screening. Newborns diagnosed with GA-I by abnormal dried blood spot glutarylcarnitine (C5DC) levels followed in our hospital were included in this study. They were treated with special diets, carnitine supplements, and immediate stress avoidance. Six patients were included in this study. All patients were treated prior to reaching 1 month of age. They were followed up with for 4 to 9 years. One patient had encephalopathic crisis episodes prior to turning 1 year old that caused pallidal lesions. Another patient had a chronic progressive disease during infancy that caused bilateral putamen lesions. These two patients had delayed development, but their brain lesions were resolved. The other four patients ran uneventful courses. They had normal intelligenece, ranged between average to low average level and their brain magnetic resonance imaging showed only high intensity over deep white matter. Patients with GA-I diagnosed by newborn screening have promising outcomes, though the risks of disease progression prior to 1 year of age remain significant.

Anikster Y, Shaag A, Joseph A, Mandel H, Ben-Zeev B, Christensen E, Elpeleg ON (1996) Glutaric aciduria type I in the Arab and Jewish communities in Israel. Am J Hum Genet 59(5):1012–1018PubMed

Basinger AA, Booker JK, Frazier DM, Koeberl DD, Sullivan JA, Muenzer J (2006) Glutaric acidemia type 1 in patients of Lumbee heritage from North Carolina. Mol Genet Metab 88(1):90–92PubMedCrossRef

Bayley N (2006) Bayley scales of infant and toddler development. Texas, Harcourt Assessment

Biery BJ, Stein DE, Morton DH, Goodman SI (1996) Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish. Am J Hum Genet 59(5):1006–1011PubMed

Chen Y (1997). The Wechsler Intelligence Scale for children, Chinese behavior science corporation

Chen J, Wang ZX, Zhang JL, Yang YL, Huang YN (2011) Mutation analysis of GCDH gene in eight patients with glutaric aciduria type I. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 28(4):374–378PubMed

Christensen E, Ribes A, Merinero B, Zschocke J (2004) Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis 27(6):861–868PubMedCrossRef

Goodman SI, Kohlhoff JG (1975) Glutaric aciduria: inherited deficiency of glutaryl-CoA dehydrogenase activity. Biochem Med 13(2):138–140PubMedCrossRef

Goodman SI, Stein DE, Schlesinger S, Christensen E, Schwartz M, Greenberg CR, Elpeleg ON (1998) Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations. Hum Mutat 12(3):141–144PubMedCrossRef

Harting I, Neumaier-Probst E, Seitz A, Maier EM, Assmann B, Baric I, Troncoso M, Muhlhausen C, Zschocke J, Boy NP, Hoffmann GF, Garbade SF, Kolker S (2009) Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I. Brain 132(Pt 7):1764–1782PubMedCrossRef

Heringer J, Boy SPN, Ensenauer R, Assmann B, Zschocke J, Harting I, Lucke T, Maier EM, Muhlhausen C, Haege G, Hoffmann GF, Burgard P, Kolker S (2010) Use of guidelines improves the neurological outcome in glutaric aciduria type I. Ann Neurol 68(5):743–752PubMedCrossRef

Hoffmann GE (2006) Cerebral organic acid disorders and other disorders of lysine catabolism. Springer, Heidelberg

Hoffmann GF, Zschocke J (1999) Glutaric aciduria type I: from clinical, biochemical and molecular diversity to successful therapy. J Inherit Metab Dis 22(4):381–391PubMedCrossRef

Hoffmann GF, Athanassopoulos S, Burlina AB, Duran M, de Klerk JB, Lehnert W, Leonard JV, Monavari AA, Muller E, Muntau AC, Naughten ER, Plecko-Starting B, Superti-Furga A, Zschocke J, Christensen E (1996) Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatrics 27(3):115–123PubMedCrossRef

Hsieh CT, Hwu WL, Huang YT, Huang AC, Wang SF, Hu MH, Chien YH (2008) Early detection of glutaric aciduria type I by newborn screening in Taiwan. J Formos Med Assoc 107(2):139–144PubMedCrossRef

Kolker 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, Marti-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 (2006) Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency. Pediatr Res 59(6):840–847PubMedCrossRef

Kolker S, Garbade SF, Boy N, Maier EM, Meissner T, Muhlhausen C, Hennermann JB, Lucke T, Haberle J, Baumkotter J, Haller W, Muller E, Zschocke J, Burgard P, Hoffmann GF (2007) Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany. Pediatr Res 62(3):357–363PubMedCrossRef

Kolker S, Christensen E, Leonard JV, Greenberg CR, Boneh A, Burlina AB, Burlina AP, Dixon M, Duran M, Garcia Cazorla A, Goodman SI, Koeller DM, Kyllerman M, Muhlhausen C, Muller E, Okun JG, Wilcken B, Hoffmann GF, Burgard P (2011) Diagnosis and management of glutaric aciduria type I–revised recommendations. J Inherit Metab Dis 34(3):677–694PubMedCrossRef

Kyllerman M, Skjeldal O, Christensen E, Hagberg G, Holme E, Lonnquist T, Skov L, Rotwelt T, von Dobeln U (2004) Long-term follow-up, neurological outcome and survival rate in 28 Nordic patients with glutaric aciduria type 1. Eur J Paediatr Neurol 8(3):121–129PubMedCrossRef

Lee NC, Chien YH, Peng SF, Huang AC, Liu TT, Wu AS, Chen LC, Hsu LW, Tseng SC, Hwu WL (2008) Brain damage by mild metabolic derangements in methylmalonic acidemia. Pediatr Neurol 39(5):325–329PubMedCrossRef

Lin M, Chu CC, Chang SL, Lee HL, Loo JH, Akaza T, Juji T, Ohashi J, Tokunaga K (2001) The origin of Minnan and Hakka, the so-called "Taiwanese", inferred by HLA study. Tissue Antigens 57(3):192–199PubMedCrossRef

Lin SK, Hsu SG, Ho ES, Tsai CR, Hseih YT, Lo FC, Lai HY, Chen MH (2002) Novel mutation and prenatal sonographic findings of glutaric aciduria (type I) in two Taiwanese families. Prenat Diagn 22(8):725–729PubMedCrossRef

Mushimoto Y, Fukuda S, Hasegawa Y, Kobayashi H, Purevsuren J, Li H, Taketani T, Yamaguchi S (2011) Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1. Mol Genet Metab 102(3):343–348PubMedCrossRef

Niu DM, Chien YH, Chiang CC, Ho HC, Hwu WL, Kao SM, Chiang SH, Kao CH, Liu TT, Chiang H, Hsiao KJ (2010) Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan. J Inherit Metab Dis 33(Suppl 2):S295–305PubMedCrossRef

Park JD, Lim B, Kim KJ, Hwang YS, Kim SK, Kang SH, Cho SI, Park SS, Lee JS, Chae JH (2010) Glutaric aciduria type 1 in Korea: report of two novel mutations. J Korean Med Sci 25(6):957–960PubMedCrossRef

Shu SG, Tsai CR, Chen LH, Chi CS (2003) Type I glutaric aciduria: phenotypes and genotypes in 5 Taiwanese children. J Formos Med Assoc 102(10):729–732PubMed

Strauss KA, Puffenberger EG, Robinson DL, Morton DH (2003) Type I glutaric aciduria, part 1: natural history of 77 patients. Am J Med Genet C Semin Med Genet 121(1):38–52CrossRef

Tang NL, Hui J, Law LK, Lam YY, Chan KY, Yeung WL, Chan AY, Cheung KL, Fok TF (2000) Recurrent and novel mutations of GCDH gene in Chinese glutaric acidemia type I families. Hum Mutat 16(5):446PubMedCrossRef

Viau K, Ernst SL, Vanzo RJ, Botto LD, Pasquali M, Longo N (2012) Glutaric acidemia type 1: outcomes before and after expanded newborn screening. Mol Genet Metab 106(4):430–438PubMedCrossRef

Title: Promising outcomes in glutaric aciduria type I patients detected by newborn screening
Authors: Chee-Seng Lee
Yin-Hsiu Chien
Shinn-Forng Peng
Pin-Wen Cheng
Lih-Maan Chang
Ai-Chu Huang
Wuh-Liang Hwu
Ni-Chung Lee
Publication date: 01-03-2013
Publisher: Springer US
Published in: Metabolic Brain Disease / Issue 1/2013
Print ISSN: 0885-7490
Electronic ISSN: 1573-7365
DOI: https://doi.org/10.1007/s11011-012-9349-z

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Promising outcomes in glutaric aciduria type I patients detected by newborn screening

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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