4-Hydroxybutyric aciduria associated with catheter usage: a diagnostic pitfall in the identification of SSADH deficiency

Mol Genet Metab. 2011 Feb;102(2):216-7. doi: 10.1016/j.ymgme.2010.10.001. Epub 2010 Oct 7.

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 types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • 4-Butyrolactone / urine
  • Amino Acid Metabolism, Inborn Errors / diagnosis*
  • Amino Acid Metabolism, Inborn Errors / enzymology
  • Catheters* / standards
  • Developmental Disabilities
  • Female
  • Humans
  • Hydroxybutyrates / blood
  • Hydroxybutyrates / urine*
  • Infant
  • Infant, Newborn
  • Maple Syrup Urine Disease / diagnosis
  • Maple Syrup Urine Disease / enzymology
  • Succinate-Semialdehyde Dehydrogenase / deficiency

Substances

  • Hydroxybutyrates
  • 4-hydroxybutyric acid
  • Succinate-Semialdehyde Dehydrogenase
  • 4-Butyrolactone

Supplementary concepts

  • succinic semialdehyde dehydrogenase deficiency