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

Metabolism. 1996 Aug;45(8):957-60. doi: 10.1016/s0026-0495(96)90262-0.

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 beta-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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Ammonia / blood*
  • Drug Resistance
  • Female
  • Glutamates
  • Humans
  • Hyperinsulinism / complications
  • Hypoglycemia / blood*
  • Hypoglycemia / etiology
  • Infant
  • Leucine / pharmacology*
  • Male

Substances

  • Glutamates
  • N-carbamylglutamate
  • Ammonia
  • Leucine