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Title:

Elevated glutaric acid levels in Dhtkd1-/Gcdh- double knockout mice challenge our current understanding of lysine metabolism.

Document type:
Journal Article; 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
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:
9
Pages contribution:
2220-2228
Language:
eng
Fulltext / DOI:
doi:10.1016/j.bbadis.2017.05.018
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/28545977
Print-ISSN:
0006-3002
TUM Institution:
Institut für Humangenetik
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