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fructose intolerance/vomissement
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Hereditary fructose intolerance in the vomiting infant.
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Aldolase B and fructose intolerance.
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Hereditary fructose intolerance is an autosomal recessive disorder that illustrates vividly the interplay between heredity and environment in the genesis of human nutritional disease. Genetically determined defects of an isozyme of fructose bisphosphate aldolase (aldolase B, which is specialized for
Doctor, my son is so tired... about a case of hereditary fructose intolerance.
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We present the case of a 17-year-old male who was diagnosed at birth with hereditary fructose intolerance (HFI). The patient complained of morning-time asthenia and post-prandial drowsiness despite a correct sleep pattern. The physical examination and biological check-up only showed severe vitamin C
Fruit-induced FPIES masquerading as hereditary fructose intolerance.
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Hereditary fructose intolerance (HFI) symptoms develop at first introduction of fruit during weaning. We report on an infant with suspected HFI who presented with repeated episodes of vomiting and hypotension after ingestion of fruit-containing meals. The first episode occurred at age 4 months.
Adult hereditary fructose intolerance.
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Hereditary fructose intolerance (HFI) is an under-recognized, preventable life-threatening condition. It is an autosomal recessive disorder with subnormal activity of aldolase B in the liver, kidney and small bowel. Symptoms are present only after the ingestion of fructose, which leads to brisk
Hereditary fructose intolerance in early childhood: a major diagnostic challenge. Survey of 20 symptomatic cases.
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Twenty infants and young children with hereditary fructose intolerance (HFI) were admitted to hospital. None was diagnosed at admission. Referals were for vomiting of unknown aetiology (16X), pyloric stenosis or hiatus hernia (5X), toxic condition (3X), and hepatomegaly of unknown origin (5X).
[Clinical heterogeneity in fructose intolerance].
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We observed eight infants with hereditary fructose intolerance which had been diagnosed by the fructose tolerance test and an aldolase assay on biopsied liver. None of these had been diagnosed before their admission to our department. The most frequent symptoms were vomiting and failure to thrive.
[Diagnostic procedures in hereditary fructose intolerance (author's transl)].
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In order to diagnose hereditary fructose intolerance up to now, there were only the dangerous fructose-load and the biochemical evidence of this metabolic defect from biopsies of liver, intestine or kidney. Since there are no screening tests nor tests for heterocygote carriers or prenatal diagnostic
Non responsive celiac disease due to coexisting hereditary fructose intolerance.
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Celiac disease is associated with several genetic disorders, but its association with hereditary fructose intolerance is rare. Hereditary fructose intolerance is a rare autosomal recessive disease of fructose metabolism presenting as vomiting after intake of fructose. An association between these
Fructose Intolerance: Cause or Cure of Chronic Functional Constipation.
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Functional constipation is a common occurrence in the pediatric population. The link between fructose ingestion and constipation is obscure due to a lack of published data. In this article, we discuss the relationship of fructose tolerance and the development of constipation via a literature review
Hereditary Fructose Intolerance Diagnosed in Adulthood
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Hereditary fructose intolerance (HFI) is an autosomal recessive disorder caused by a mutation in the aldolase B gene. HFI patients exhibit nausea, vomiting, abdominal pain, hypoglycemia, and elevated liver enzymes after dietary fructose exposure. Chronic exposure might lead to failure to thrive,
Recent advances in the pathogenesis of hereditary fructose intolerance: implications for its treatment and the understanding of fructose-induced non-alcoholic fatty liver disease.
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Hereditary fructose intolerance (HFI) is a rare inborn disease characterized by a deficiency in aldolase B, which catalyzes the cleavage of fructose 1,6-bisphosphate and fructose 1-phosphate (Fru 1P) to triose molecules. In patients with HFI, ingestion of fructose results in accumulation of Fru 1P
[Severe lactic acidosis requiring continuos haemodiafiltration in a young patient with unrecognized metabolic abnormality. Case report].
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BACKGROUND
Lactic acidosis (LA) is the most common form of metabolic acidosis, defined by lactate values greater than 5 mmol/L and pH<7.34. The pathogenesis of LA involves hypoxic causes (type A) and non-hypoxic (type B), often coexisting. Identification and removal of the trigger are mandatory in
[Acute liver failure related to inherited metabolic diseases in young children].
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BACKGROUND
Pediatric acute liver failure (ALF) due to inherited metabolic diseases (IMD) is a rare life-threatening condition with a poor prognosis. Early intervention may be lifesaving.
OBJECTIVE
To describe clinical presentation, investigation and outcomes of ALF related to IMD in young
When Long-Lasting Food Selectivity Leads to an Unusual Genetic Diagnosis: A Case Report.
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Hereditary fructose intolerance is an autosomal recessive disorder of fructose metabolism caused by catalytic deficiency of aldolase B enzyme [1]. The disease is typically expressed when fructose- and sucrose-containing foods are first introduced in the diet; acute manifestations include nausea,
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