4-Hydroxybutyric aciduria associated with catheter usage: A diagnostic pitfall in the identification of SSADH deficiency
Document Type
Article
Publication Date
2-2011
Department
Department of Biological Sciences
Abstract
Succinic semialdehyde dehydrogenase deficiency is a slowly progressive to static neurological disorder featuring elevated concentrations of 4-hydroxybutyric acid in body fluids. We present two patients with elevated 4-hydroxybutyric acid in urine which was later shown to be linked to catheter usage.
Publication Title
Molecular Genetics and Metabolism
Recommended Citation
Wamelink, M.,
Roos, B.,
Jansen, E.,
Mulder, M.,
Gibson, K.,
&
Jakobs, C.
(2011).
4-Hydroxybutyric aciduria associated with catheter usage: A diagnostic pitfall in the identification of SSADH deficiency.
Molecular Genetics and Metabolism,
102(2), 216-217.
http://doi.org/10.1016/j.ymgme.2010.10.001
Retrieved from: https://digitalcommons.mtu.edu/michigantech-p/7187