Dietary management and outcome of newly diagnosed pregnant woman with citrullinemia type 1 (CROSBI ID 639870)
Prilog sa skupa u časopisu | sažetak izlaganja sa skupa | međunarodna recenzija
Podaci o odgovornosti
Uroić, Valentina ; Mesarić, Nikola ; Pavić, Eva ; Petković Ramadža, Danijela ; Sarnavka, Vladimir ; Fumić, Ksenija ; Zekušić, Marija ; Škaričić, Ana ; Grgić Medić, Marijana ; Zlopaša, Ozrenka ; Gašparović, Vladimir ; Elveđi Gašparović Vesna ; Barić, Ivo
hrvatski
Dietary management and outcome of newly diagnosed pregnant woman with citrullinemia type 1
Background and objective: Citrullinemia type 1 (CTLN 1) is a rare autosomal recessive disorder caused by deficiency of argininosuccinate synthetase. CTLN1 presents as a clinical spectrum ranging from classic neonatal form to late-onset and even asymptomic form. Some women remain undiag-nosed until acute deteriora tion during pregnancy or post partum period. There are no clear recommendations for man- agement of newly diagnosed illness during pregnancy (pregnant women). Case report: A 20-year old women presented at 27th week of gestation with acute liver failure and encephalopathy. As plasma ammonia was high (220 μmol/L) metabolic work-up was performed. Plasma citrulline (921 μmol/L ; N 10-55 μmol/L) and glutamine (1141 μmol/L ; N 340-740 μmol/L) were high, arginine and argininosuccinate were unmeasurably low. Orotic acid excretion in urine was elevated. Treatment with sufficient caloric intake and low protein diet, arginine supplementation and sodium benzoate resulted in complete recovery.Patient tolerated 1.1g protein/kgBW, and probably could more. Plasma ammonia remained normal and amino acids in acceptable range. In 39 th week the patient delivered a healthy baby. Conclusion: Dietary management is an essential part of treatment of pregnant women with citrullinemia type I and contributes to good outcome both for the mother and baby.
Pregnant woman with citrullinemia type 1
nije evidentirano
engleski
Dietary management and outcome of newly diagnosed pregnant woman with citrullinemia type 1
nije evidentirano
Pregnant woman with citrullinemia type 1
nije evidentirano
Podaci o prilogu
95-95.
2015.
nije evidentirano
objavljeno
Podaci o matičnoj publikaciji
Journal of inherited metabolic disease
0141-8955
Podaci o skupu
International Congress of Inborn Errors of Metabolism
poster
01.09.2015-04.09.2015
Lyon, Francuska