Quantitative analysis of plasma amino acids on tandem mass spectrometer in newly diagnosed pregnant woman with citrullinemia type 1 (CROSBI ID 630419)
Prilog sa skupa u zborniku | sažetak izlaganja sa skupa
Podaci o odgovornosti
Škaričić, Ana ; Zekušić, Marija ; Bilić, Karmen ; Fumić, Ksenija ; Rogić, Dunja ; Uroić, Valentina ; Petković Ramadža, Danijela ; Sarnavka, Vladimir ; Barić, Ivo
engleski
Quantitative analysis of plasma amino acids on tandem mass spectrometer in newly diagnosed pregnant woman with citrullinemia type 1
A 20-year-old pregnant woman presented at 27th week of gestation with acute liver failure and hyperammonemia. Plasma amino acids were analyzed using high performance liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS). Plasma citrulline (921 µmol/L ; N 10-55 µmol/L) and glutamine (1141 µmol/L ; N 340-740 µmol/L) were extremely high and arginine was unmeasurably low. There was no argininosuccinate in plasma. Based on these findings, citrullinemia type 1 was diagnosed. Routine weekly monitoring for ammonia and amino acid concentration continued until post partum period. The patient delivered a healthy baby. Women with newly diagnosed citrullinemia type 1 can have normal pregnancy outcomes if metabolic crisis is treated promptly and ammonia and amino acid levels are monitored regularly during pregnancy.
citrullinemia type 1 ; tandem mass spectrometer
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Podaci o prilogu
99-99.
2015.
objavljeno
Podaci o matičnoj publikaciji
Podaci o skupu
MSCAL 2015 EU, The 2nd Annual European Congress
poster
08.09.2015-11.09.2015
Salzburg, Austrija