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Fructose 1,6-bisphosphatase deficiency: enzyme and mutation analysis performed on calcitriol-stimulated monocytes with a note on long-term prognosis.

Journal article
Authors Cristine Åsberg
Ola Hjalmarson
Jan Alm
Tommy Martinsson
Johan Waldenström
Christina Hellerud
Published in Journal of inherited metabolic disease
ISSN 1573-2665
Publication year 2010
Published at Institute of Biomedicine, Department of Medical and Clinical Genetics
Institute of Clinical Sciences, Department of Pediatrics
Language en
Links dx.doi.org/10.1007/s10545-009-9034-...
Subject categories Cell and Molecular Biology

Abstract

Fructose 1,6-bisphosphatase (FBPase) deficiency is an inborn error of metabolism in the gluconeogenetic pathway. During periods of low food intake or infections, a defect in FBPase can result in hypoglycemia, ketonuria and metabolic acidosis. We established a diagnostic system for FBPase deficiency consisting of enzyme activity measurement and mutation detection in calcitriol-stimulated monocytes. In healthy individuals, we showed that FBPase activity is present in monocytes but not in other leukocytes. We describe the clinical course of four individuals from two Swedish families with FBPase deficiency. Family 1: patient 1 died at the age of 6 months after a severe episode with hypoglycemia and acidosis; patients 2 and 3 were followed for >30 years and were found to have a very favorable long-term prognosis. Their FBPase activity from jejunum (residual activity 15-25% of healthy controls), mixed leukocytes (low or normal levels), and calcitriol-stimulated monocytes (no detectable activity) was compared. Mutation analysis showed they were heterozygous for two genetic alterations (c.778G>A; c.881G>A), predicting amino acid exchanges at position p.G260R and p.G294E, originating from their parents. Family 2: patient 4 had no detectable levels of FBPase in stimulated monocytes. A mutation (c.648C>G) predicting a premature stop codon at position p.Y216X was found in one allele and a large deletion of about 300 kb, where the genes FBP2, FBP1 and a part of ONPEP are located, in the other. In conclusion, we present a reliable diagnostic system to verify an FBPase deficiency and find the genetic aberration.

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