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Document type:
journal article 
Author(s):
Biagosch, Caroline; Ediga, Raga Deepthi; Hensler, Svenja-Viola; Faerberboeck, Michael; Kuehn, Ralf; Wurst, Wolfgang; Meitinger, Thomas; Kölker, Stefan; Sauer, Sven; Prokisch, Holger 
Title:
Elevated glutaric acid levels in Dhtkd1-/Gcdh- double knockout mice challenge our current understanding of lysine metabolism. 
Abstract:
Glutaric aciduria type I (GA-I) is a rare organic aciduria caused by the autosomal recessive inherited deficiency of glutaryl-CoA dehydrogenase (GCDH). GCDH deficiency leads to disruption of l-lysine degradation with characteristic accumulation of glutarylcarnitine and neurotoxic glutaric acid (GA), glutaryl-CoA, 3-hydroxyglutaric acid (3-OHGA). DHTKD1 acts upstream of GCDH, and its deficiency leads to none or often mild clinical phenotype in humans, 2-aminoadipic 2-oxoadipic aciduria. We hypoth...    »
 
Journal title abbreviation:
Biochim Biophys Acta 
Year:
2017 
Journal volume:
1863 
Journal issue:
Pages contribution:
2220-2228 
Language:
eng 
Print-ISSN:
0006-3002 
TUM Institution:
Institut für Humangenetik