engleski

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 undiagnosed until acute deterioration during pregnancy or post partum period. There aren't firm recommendations for management of newly diagnosed 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 1.1 g protein/kgBW, and probably could more. Plasma ammonia remained normal and amino acids in acceptable range. In 39th 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 the baby.

diet ; pregnancy ; citrullinemia type 1

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