4-Hydroxybutyric aciduria associated with catheter usage: a diagnostic pitfall in the identification of SSADH deficiency.
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.
Wamelink
M M C
MM
VU University Medical Center, Department of Clinical Chemistry, Metabolic Unit, Amsterdam, The Netherlands. m.wamelink@vumc.nl
Roos
B
B
Jansen
E E W
EE
Mulder
M F
MF
Gibson
K M
KM
Jakobs
C
C
D015107:4-Butyrolactone / Q000652:urine; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000201:enzymology; D057785:Catheters / Q000592:standards; D002658:Developmental Disabilities; D005260:Female; D006801:Humans; D006885:Hydroxybutyrates / Q000097:blood / Q000652:urine*; D007223:Infant; D007231:Infant, Newborn; D008375:Maple Syrup Urine Disease / Q000175:diagnosis / Q000201:enzymology; D050644:Succinate-Semialdehyde Dehydrogenase / Q000172:deficiency
D006885:Hydroxybutyrates; C111420:4-hydroxybutyric acid; D050644:Succinate-Semialdehyde Dehydrogenase; D015107:4-Butyrolactone