698 THERAPY OF NEONATAL ONSET UREA CYCLE ENZYMOPATHIES, (UCE)

Abstract

We treated 12 children with neonatal onset UCE: CPS 1, OTC 3, AS 4, AL 4. CPS and OTC were treated with protein restriction (PR) 0.5-lg/kg/d + essential amino acids (EAA) 1g/kg/d + arginine lmmol/kg/d + benzoate (B) 1.75 mmol/kg/d. AS was treated with PR + EAA + Arg (3-4mmol/kg/d) + B. AL was treated with PR + Arg (3-4mmol/kg/d). All patients are alive (mean age 12mo., range 1-32 mo.). Plasma NH4 levels were normal (< 35μM) or near normal except when dietary therapy was interrupted by illness or non-compliance. Then hyperammonemia (150-380μM) responded to intravenous Arg and/or B within 5 hours. Weight gain is normal; linear growth delayed. Intellectual development has been normal in 7, mildly delayed in 4 and severely delayed in one. Fasting plasma levels on therapy are: Arg 50-150μM; Gly 120-300μM, B 1-5mg%, hippurate 1-5mg%. There was a transient increase in SGOT in one case each of AS and AL. Two AL patients developed hyperlipemia. While receiving Arg one patient, inadvertently given 6mmol/kg B, developed vomiting and irritability with plasma Gly of 64uM and benzoate of 124mg%. SGOT was normal and the child recovered in 12 hours. Thus reduction of the requirement for waste nitrogen excretion (WNE) and promoting WNE as hippurate, Cit or argininosuccinic acid has been effective in permitting survival in these previously fatal diseases.

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