Sodium citrate supplementation in inborn argininosuccinate lyase deficiency: a study in a 5-year-old patient under total parenteral nutrition

European Journal of Pediatrics
C RennerH Böhles

Abstract

The effects of sodium citrate supplementation to improve aspartic acid supply in a 5-year-old girl with argininosuccinate lyase deficiency were studied over a period of 5 years under constant and total parenteral nutrition. Daily increasing doses of sodium citrate (0-8 mmol/kg) were continuously infused i.v.. Her standard therapy with arginine hydrochloride (4 mmol/kg/day) and sodium benzoate (200 mg/kg/day) was continued. Serum citrulline concentrations were reduced by citrate supplementation (161.8-41.7 mumol/l). Correspondingly serum concentrations of argininosuccinate and its anhydrides rose (270-458 mumol/l), positively correlated with the doses of sodium citrate. Renal elimination of argininosuccinate did not change measurably. There was no improvement in plasma ammonia concentration, which remained between 88 and 136 mumol/l. A long-standing hepatomegaly did not improve. The patient developed a significant alkalosis with blood pH-values increasing up to 7.55. The alkalosis lead to a reduction in renal ammonium elimination by at least 5.3 mmol/kg per day; the portion of ammonium-nitrogen decreased from 54.2% to finally 9% of total urinary nitrogen. Nevertheless total urinary nitrogen elimination, as measured by pyrochemil...Continue Reading

References

May 1, 1992·Metabolism: Clinical and Experimental·B MarescauP P De Deyn
Jun 1, 1991·Jinrui idengaku zasshi. The Japanese journal of human genetics·K FujikiT Shiono
Jul 1, 1990·The Journal of Pediatrics·A K IafollaC R Roe
Jan 1, 1993·JPEN. Journal of Parenteral and Enteral Nutrition·R A HelmsM C Storm

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Citations

Oct 18, 2005·Critical Care Clinics·Brendan LeeMarshall L Summar

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