Hereditary fructose intolerance: A difficult diagnosis in the adult

Lameire, Norbert; Mussche, M. M.; Baele, G; Kint, J.; Ringoir, S

doi:10.1016/0002-9343(78)90767-2

Cited by 49 publications

(28 citation statements)

References 19 publications

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“…These findings confirm that the aldolase isozyme expression and activity between species is similar. The standard criteria for diagnosis of HFI in humans is the increase in the ratio of the liver-aldolase activities toward Fru 1,6-P 2 over Fru 1-P [17,19]. Consistent with these similarities, a change in Fru 1,6-P 2 :Fru 1-P activity ratio was similar in the Aldo2 −/− mice compared to the WT mice, as is seen in human HFI patients compared to non-HFI patients (Fig.…”

Section: Confirmation Of Aldolase-b Deficiencymentioning

confidence: 59%

“…HFI, the more serious disorder, first presents in infancy after weaning when fructose-containing foods are introduced into the diet. Following fructose ingestion, symptoms vary, but infants often present clinically with failure to thrive, and persistent intake of fructose can lead to hypoglycemia, jaundice, non-alcoholic fatty liver disease (NAFLD), renal tubular failure, metabolic acidosis, seizures, coma, progressive cirrhosis of the liver, and eventually death [16][17][18][19][20]. The pathophysiology of HFI has been explained by the sequestration of intracellular phosphate in the unutilized intermediate, fructose 1-phosphate (Fru 1-P) [21,22], although the complete biochemical underpinnings leading to hepatosteatosis are not well understood.…”

Section: Introductionmentioning

confidence: 99%

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Aldolase-B knockout in mice phenocopies hereditary fructose intolerance in humans

Oppelt

Sennott

Tolan

2015

Molecular Genetics and Metabolism

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Section: Confirmation Of Aldolase-b Deficiencymentioning

confidence: 59%

Section: Introductionmentioning

confidence: 99%

Aldolase-B knockout in mice phenocopies hereditary fructose intolerance in humans

Oppelt

Sennott

Tolan

2015

Molecular Genetics and Metabolism

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“…14 The gold standard test for HFI has been for many years the direct assay of aldolase activity, performed in liver biopsy samples. 15,16 Today, according to the US Government Genetic Tests Registry, these tests have been replaced by genetic tests, as sequence analysis of select exons, deletion/duplication analysis, and by sequence analysis of the entire coding region.…”

Section: Patient Presentationmentioning

confidence: 99%

Fruit-Induced FPIES Masquerading as Hereditary Fructose Intolerance

et al. 2014

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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. Despite negative genetic testing for HFI, strict avoidance of fruit ingestion resulted in lack of recurrence of symptoms. Oral-fructose-tolerance testing conducted with an apple mousse did not determine hypoglycemia or fructosuria but caused severe hypotension. Allergy evaluations were negative, and the history was diagnostic for fruit-induced food protein-induced enterocolitis syndrome. Because this non-immunoglobulin E-mediated gastrointestinal food hypersensitivity manifests as profuse, repetitive vomiting, often with diarrhea, leading to acute dehydration and lethargy, it may be misinterpreted as HFI. We advise pediatricians to consider food protein-induced enterocolitis syndrome in the differential diagnosis when there is a suspicion of HFI. Pediatrics 2014;134:e602-e605 AUTHORS:

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“…Durch ein instinktives Vermeidungsverhalten gegenüber süßen Speisen wird die Diagnose in Einzelfällen erst im Erwachsenenalter gestellt [107,108]. Der Leberschaden ist in der Regel mäßiggradig und steht hinter der übrigen Symptomatik zurück.…”

Section: Hereditäre Fruktoseintoleranzunclassified

Lebertransplantation bei metabolischen Lebererkrankungen im Erwachsenenalter

Rifai

Manns²,

Bahr³

2004

Z Gastroenterol

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The clinical presentation of metabolic liver disease is highly variable, covering acute liver failure, liver cirrhosis, hepatic cancer and various extrahepatic manifestations. Both natural course and prognosis after liver transplantation are substantially influenced by extrahepatic manifestations. In many types of metabolic liver disease, timely diagnosis allows for successful medical treatment. However, progressive liver failure and severe extrahepatic damage can be the indication for liver transplantation. In general, standard transplantation criteria also apply for metabolic liver disease. They have to be modified by disease-specific criteria, and extrahepatic damage may necessitate multiorgan transplantation. The overall prognosis after liver transplantation for metabolic liver disease is favorable. Furthermore, several metabolic defects are phenotypically cured by liver transplantation. Alternative treatments like hepatocyte transplantation or gene therapy are still in the experimental stage.

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Hereditary fructose intolerance: A difficult diagnosis in the adult

Cited by 49 publications

References 19 publications

Aldolase-B knockout in mice phenocopies hereditary fructose intolerance in humans

Aldolase-B knockout in mice phenocopies hereditary fructose intolerance in humans

Fruit-Induced FPIES Masquerading as Hereditary Fructose Intolerance

Lebertransplantation bei metabolischen Lebererkrankungen im Erwachsenenalter

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