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Brain 2006 129(8):e54; doi:10.1093/brain/awl137
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© The Author (2006). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Lysine intake and neurotoxicity in glutaric aciduria type I: towards a rationale for therapy?

Received March 24, 2006. Accepted April 25, 2006.

The first 150 words of the full text of this article appear below.

Glutaric aciduria type I (GA-I) is a rare cerebral organic acid disorder caused by inherited deficiency of glutaryl-CoA dehydrogenase (GCDH; EC 1.3.99.7 [EC] ), a mitochondrial flavoprotein catalysing the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA in the final catabolic pathways of the amino acids L-lysine, L-hydroxylysine and L-tryptophan (Goodman et al., 1975Go). Biochemically, GA-I is characterized by an accumulation of the dicarboxylic acids glutaric acid (GA) and 3-hydroxyglutaric acid (3-OH-GA) as well as glutarylcarnitine (Baric et al., 1999Go). Clinically, the disease course is complicated by striatal injury during an acute encephalopathic crisis, which is usually precipitated by a catabolic state (e.g. infectious diseases) in infancy or early childhood (Strauss et al., 2003Go; Kölker et al., 2006Go). If treated before the onset of irreversible neurological symptoms, the encephalopathic crises can be prevented in the majority of children (Strauss et al., . . . [Full Text of this Article]


   Lysine excess and neurotoxicity
 

   Lack of elevated 3-hydroxyglutaric acid, the key metabolite of glutaric aciduria type I
 

   Dicarboxylic acids and the brain—a lesson from the ‘deep’ metabolic compartment
 

   BBB dysfunction—a missing link?
 

   Lysine restriction and neuroprotection
 
Stefan Kölker1, Sven W. Sauer1, Jürgen G. Okun1, Georg F. Hoffmann1 and David M. Koeller2

1 Department of General Pediatrics, Division of Inborn Metabolic Diseases University Children's Hospital, Heidelberg, Germany 2 Departments of Pediatrics, Molecular and Medical Genetics Oregon Health and Science University, Portland, OR, USA

Correspondence to: Stefan Kölker, MD, Department of General Pediatrics, Division of Inborn Metabolic Diseases, University Children's Hospital, Im Neuenheimer Feld 150, D-69120 Heidelberg, Germany E-mail: Stefan_Koelker@med.uni-heidelberg.de


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