Introduction Hereditary fructose intolerance, inherited as an autosomal recessive character, is an inborn error of carbohydrate metabolism caused by a deficiency of hepatic aldolase B2) (1, 2). The disease is heterogeneous at the molecular level and analysis of the relative DNA mutations may allow an early diagnosis in infants and identification of the carrier status. This would avoid the routinely performed intravenous fructose tolerance test or the direct assay of aldolase activity in liver biopsy samples. The aldolase B gene, located on chromosome 9 (3), is 14.5 · 103 bases long and consists of nine exons coding for a protein of 365 amino acid residues (4). Ten mutations have been described to-date; of these the most common are two single-base substitutions (A149P and A174D) in exon 5 (5). The A149P mutation leads to a protein with greatly diminished activity towards the fructose-1-phosphate and fructose1,6-bisphosphate substrates, while the A174D muta) Funding Organizations: Consiglio Nazionale delle Ricerche (CNR); Ministero dell'Universita e della Ricerca Scientifica e Tecnologica (MURST); Regione Campania. 2 ) Enzyme: Fructose-bisphosphate aldolase, EC 220.127.116.11 Eur. J. Clin. Chem. Clin. Biochem. / Vol. 31,1993 / No. 10 tion leads to a highly unstable protein. Other recently described mutations are
Clinical Chemistry and Laboratory Medicine – de Gruyter
Published: Jan 1, 1993
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