title: 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 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.
authors.affiliation: Department of Pediatrics, University of Florence, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Zammarchi
authors.forename: L
authors.initials: L
authors.lastname: Filippi
authors.forename: E
authors.initials: E
authors.lastname: Novembre
authors.forename: M A
authors.initials: MA
authors.lastname: Donati
mesh_terms: D000328:Adult; D000641:Ammonia / Q000097:blood*; D004351:Drug Resistance; D005260:Female; D005971:Glutamates; D006801:Humans; D006946:Hyperinsulinism / Q000150:complications; D007003:Hypoglycemia / Q000097:blood* / Q000209:etiology; D007223:Infant; D007930:Leucine / Q000494:pharmacology*; D008297:Male
chemical_list: D005971:Glutamates; C006895:N-carbamylglutamate; D000641:Ammonia; D007930:Leucine