Biochemical evaluation of a patient with a familial form of leucine-sensitive hypoglycemia and concomitant hyperammonemia

Abstract 

A case of a child with recurrent episodes of severe hypoglycemia since the age of 6 months is reported. Biochemical evaluation extended to the first-degree relatives is consistent with a familial form of hypoglycemia due to a leucine-sensitive hyperinsulinism. In addition, this patient has a persistent elevation of serum ammonia levels of uncertain etiology that is more pronounced after meals. Urea cycle defects, organic acidurias, and β-oxidation defects have been ruled out, as well as a possible excessive deamination of glucogenetic amino acids. This unexpected hyperammonemia, which was also detected in the mother, might be related to leucine hypersensitivity.

No full text is available. To read the body of this article, please view the PDF online.