Acute encephalopathy despite early therapy in a patient with homozygosity for E365K in the glutaryl-coenzyme A dehydrogenase gene

Kölker, S.; Ramaekers, Vincent; Zschocke, J.; Hoffmann, G. F.

doi:10.1067/mpd.2001.110303

Article (Scientific journals)

Acute encephalopathy despite early therapy in a patient with homozygosity for E365K in the glutaryl-coenzyme A dehydrogenase gene

Kölker, S.; Ramaekers, Vincent; Zschocke, J. et al.

2001 • In Journal of Pediatrics, 138 (2), p. 277-279

Peer Reviewed verified by ORBi

Permalink
https://hdl.handle.net/2268/168845

DOI
10.1067/mpd.2001.110303

PubMed
11174631

Files (1)Send to Details Statistics Bibliography Similar publications

Files

Full Text

Acute encephalopathy despite early therapy in a patient with homozygosity for E365K in the glutaryl-coenzyme A dehydrogenase gene.pdf

Publisher postprint (81 kB)

Request a copy

All documents in ORBi are protected by a user license.

Send to

RIS BibTex APA Chicago Permalink X Linkedin

Details

Keywords :

Acute Disease; Brain Diseases, Metabolic, Inborn; Glutarates; Glutaryl-CoA Dehydrogenase; Homozygote; Humans; Infant; Male; Metabolism, Inborn Errors; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Treatment Outcome

Abstract :

[en] A patient with glutaric aciduria type I had an acute encephalopathic crisis despite early treatment. This report indicates that current therapeutic strategies may be insufficient for some high-risk patients and stresses the demand for new approaches in glutaric aciduria type I.

Disciplines :

Pediatrics
Neurology

Author, co-author :

Kölker, S.; University Children's Hospital, Department of General Pediatrics, Heidelberg, Germany, University Children's Hospital, Department of Neuropediatrics, Aachen, Germany

Ramaekers, Vincent ; University Children's Hospital, Aachen, Germany > Neuropadiatrics

Zschocke, J.; University Children's Hospital, Department of General Pediatrics, Heidelberg, Germany, University Children's Hospital, Department of Neuropediatrics, Aachen, Germany

Hoffmann, G. F.; University Children's Hospital, Department of General Pediatrics, Heidelberg, Germany, University Children's Hospital, Department of Neuropediatrics, Aachen, Germany

Language :

English

Title :

Acute encephalopathy despite early therapy in a patient with homozygosity for E365K in the glutaryl-coenzyme A dehydrogenase gene

Publication date :

February 2001

Journal title :

Journal of Pediatrics

ISSN :

0022-3476

eISSN :

1097-6833

Publisher :

Mosby, St. Louis, United States - Missouri

Volume :

138

Issue :

Pages :

277-279

Peer reviewed :

Peer Reviewed verified by ORBi

Available on ORBi :

since 07 June 2014

Statistics

Number of views

48 (0 by ULiège)

Number of downloads

1 (0 by ULiège)

More statistics

Scopus citations^®

Scopus citations^®
without self-citations

OpenCitations

OpenAlex citations

Bibliography

Goodman S.I., Frerman F.E. (1995) Organic acidemias due to defects in lysine oxidation: 2-ketoadipic acidemia and glutaric acidemia., Scriver CR, Beaudet LA, Sly WS, Valle D, editors. Basis of inherited metabolic disease. 7th ed. New York: McGraw Hill; 1451-1460.
Hoffmann G.F., Athanassopoulos S., Burlina A.B., Duran M., DeKlerck J.B.C., Lehnert W. (1996) Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatrics 27:115-123.
Baric I., Wagner L., Feyh P., Liesert M., Buckel W., Hoffmann G.F. (1999) Sensitivity and specificity of free and total glutaric and 3-hydroxyglutaric acids measurements by stable isotope dilution assays for the diagnosis of glutaric aciduria type. J Inherit Metab Dis 22:867-881.
McGarry J.D., Foster D.W. (1976) An improved and simplified radioisotopic assay for determination of free and esterified carnitine analysis. J Lipid Res 17:277-281.
Zschocke J., Quak E., Guldberg P., Hoffmann G.F. (2000) Mutation analysis in glutaric aciduria type I. J Med Genet 37:177-181.
Monavari A.A., Naughten E.R. (2000) Prevention of cerebral palsy in glutaric aciduria type 1 by dietary management. Arch Dis Child 82:67-70.
Nyhan W.L., Zschocke J., Hoffmann G.F., Stein D.E., Bao L., Goodman S. (1999) Glutaryl-CoA dehydrogenase deficiency presenting as 3-hydroxyglutaric aciduria. Mol Genet Metab 66:199-204.
Goodman S.I., Stein D.E., Schlesinger S., Christensen E., Schwartz M., Greenberg C.R. (1998) Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): Review and report of thirty novel mutations. Hum Mutat 12:141-144.
Kölker S., Ahlemeyer B., Krieglstein J., Hoffmann G.F. (2000) Maturation-dependent neurotoxicity of 3-hydroxyglutaric and glutaric acids in vitro: A new pathophysiologic approach to glutaryl-CoA dehydrogenase deficiency. Pediatr Res 47:495-503.
Ikonomidou C., Bosch F., Miksa M., Bittigau P., Vöckler J., Dikranian K. (1999) Blockade of NMDA receptors and apoptotic neurodegeneration in the developing brain. Science 283:70-74.
Green A., Pollitt R.J. (1999) Population newborn screening for inherited metabolic disease: Current UK perspectives. J Inherit Metab Dis 22:572-579.