Title

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

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