4-Hydroxybutyric aciduria associated with catheter usage: A diagnostic pitfall in the identification of SSADH deficiency
Document Type
Article
Publication Date
2-1-2011
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. © 2010 Elsevier Inc.
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