Compounding sodium benzoate oral liquid for urea cycle disorders

Introduction

Urea cycle disorders (UCD) are rare inherited metabolic disorders with an incidence estimated to be 1:35,000 births.¹ UCDs are caused by the dysfunction of any of the six enzymes (namely, carbamoyl phosphate synthetase I, N-acetylglutamate synthetase, ornithine transcarbamylase, argininosuccinic acid synthetase, argininosuccinate lyase, and arginase) or the two transport proteins (ornithine translocase and aspartate/glutamate carrier) involved in urea biosynthesis.^2,3 The urea cycle converts the highly toxic ammonia produced from amino acid catabolism into urea, for excretion via the kidneys. A defect in urea synthesis results in hyperammonemia.²

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UCDs are usually diagnosed in early childhood, however partial enzyme deficiencies can remain silent, until rare episodes of protein overload or increased catabolism can result in hyperammonemia.¹ Hyperammonemia risk is also increased in cases of prolonged fasting, surgery, trauma, pregnancy, or episodes of increased catabolism in infections such as gastroenteritis.¹ UCDs account for  ap