1/4. Isolated fructose malabsorption. A patient with isolated fructose malabsorption presented with diarrhoea and colic during the first year of life and subsequently responded to a fructose free diet. Fructose malabsorption has been implicated in some cases of irritable bowel syndrome in adults and may also be an infrequently recognised cause of gastrointestinal symptoms in children. ( info) |
2/4. Severe acidosis in a neonate with pulmonary valve stenosis: a possible stress inducer of a fatal syndrome of fructose-1, 6-biphosphatase and aldolase deficiency. A neonate is described whose clinical condition rapidly and irreversibly deteriorated on day two. He developed a profound acidosis, hypoglycaemia and a shock-like syndrome. The infant was centrally cyanosed and had a systolic murmur from a moderately severe pulmonary valve stenosis and a small atrial septal defect. The overwhelming acidosis was inconsistent with the severity of the congenital heart defects and as no infection was found a metabolic cause was sought. liver tissue obtained at autopsy shortly after death on day four, showed deficiencies of fructose-1, 6-biphosphatase and aldolase. ( info) |
3/4. Molecular analysis of aldolase B genes in the diagnosis of hereditary fructose intolerance in the United Kingdom. To investigate the molecular basis of hereditary fructose intolerance, we have studied 12 British patients, all of whom were found to carry a single mutation in the gene coding for aldolase B. We have estimated the frequency of this lesion, termed A149P, amongst affected individuals in the population and predict that a diagnosis may be made non-invasively in more than 83 per cent of cases by demonstrating the presence of this allele. Genetic diagnosis and detection of asymptomatic carriers of the disease may be achieved by the specific amplification of dna derived from mouthwash samples followed by hybridization to allele-specific oligonucleotides. ( info) |
| Congenital hereditary fructose intolerance is associated with the inability to tolerate fructose and carbohydrates, which are converted into fructose. We describe management of a pregnancy complicated by this disease in the mother and its implications for the neonate. ( info) |