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Hereditary fructose intolerance

Miguel A Lanaspa, Ana Andres-Hernando, David J Orlicky, Christina Cicerchi, Cholsoon Jang, Nanxing Li, Tamara Milagres, Masanari Kuwabara, Michael F Wempe, Joshua D Rabinowitz, Richard J Johnson, Dean R Tolan
Increasing evidence suggests a role for excessive intake of fructose in the Western diet as a contributor to the current epidemics of metabolic syndrome and obesity. Hereditary fructose intolerance (HFI) is a difficult and potentially lethal orphan disease associated with impaired fructose metabolism. In HFI, the deficiency of aldolase B results in the accumulation of intracellular phosphorylated fructose, leading to phosphate sequestration and depletion, increased adenosine triphosphate (ATP) turnover, and a plethora of conditions that lead to clinical manifestations such as fatty liver, hyperuricemia, Fanconi syndrome, and severe hypoglycemia...
April 23, 2018: Journal of Clinical Investigation
Hong Li, Heather M Byers, Alicia Diaz-Kuan, Miriam B Vos, Patricia L Hall, Silvia Tortorelli, Rani Singh, Matthew B Wallenstein, Meredith Allain, David P Dimmock, Ryan M Farrell, Shawn McCandless, Michael J Gambello
Hereditary fructose intolerance (HFI) is an autosomal recessive disorder caused by aldolase B (ALDOB) deficiency resulting in an inability to metabolize fructose. The toxic accumulation of intermediate fructose-1-phosphate causes multiple metabolic disturbances, including postprandial hypoglycemia, lactic acidosis, electrolyte disturbance, and liver/kidney dysfunction. The clinical presentation varies depending on the age of exposure and the load of fructose. Some common infant formulas contain fructose in various forms, such as sucrose, a disaccharide of fructose and glucose...
April 2018: Molecular Genetics and Metabolism
Didem Demirbas, William J Brucker, Gerard T Berry
The liver is one of the most essential organs in metabolism and is responsible for metabolizing a wide variety of molecules from amino acids to sugars. Although it is responsible for many essential metabolic processes, it is one of the most severely affected by metabolic disease because, in many cases, it is the first to be exposed to the toxic intermediates. The metabolism of galactose, fructose, and tyrosine involve the liver and although there are systemic findings in metabolic disease involved with these substrates, severe hepatopathy is a common presenting aspect of galactosemia, hereditary fructose intolerance, and tyrosinemia type I...
April 2018: Pediatric Clinics of North America
Daniela Păcurar, Gabriela Leşanu, Irina Dijmărescu, Iulia Florentina Ţincu, Mihaela Gherghiceanu, Dumitru Orăşeanu
Celiac disease (CD) has been associated with several genetic and immune disorders, but association between CD and hereditary fructose intolerance (HFI) is extremely rare. HFI is an autosomal recessive disease caused by catalytic deficiency of aldolase B (fructose-1,6-bisphosphate aldolase). We report the case of a 5-year-old boy suffering from CD, admitted with an initial diagnosis of Reye's-like syndrome. He presented with episodic unconsciousness, seizures, hypoglycemia, hepatomegaly and abnormal liver function...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
Filipa Dias Costa, Rita Moinho, Sandra Ferreira, Paula Garcia, Luísa Diogo, Isabel Gonçalves, Carla Pinto
INTRODUCTION: 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 children. MATERIAL AND METHODS: Retrospective review of the medical records of children aged up to 24 months, admitted to a tertiary pediatric and neonatal Intensive Care Unit during a 27-year period, fulfilling the ALF criteria, with documented metabolic etiology...
February 2018: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
Christel Tran
Fructose is one of the main sweetening agents in the human diet and its ingestion is increasing globally. Dietary sugar has particular effects on those whose capacity to metabolize fructose is limited. If intolerance to carbohydrates is a frequent finding in children, inborn errors of carbohydrate metabolism are rare conditions. Three inborn errors are known in the pathway of fructose metabolism; (1) essential or benign fructosuria due to fructokinase deficiency; (2) hereditary fructose intolerance; and (3) fructose-1,6-bisphosphatase deficiency...
April 3, 2017: Nutrients
Carlos R Ferreira, Joseph M Devaney, Sean E Hofherr, Laura M Pollard, Kristina Cusmano-Ozog
We describe a patient with failure to thrive, hepatomegaly, liver dysfunction, and elevation of multiple plasma lysosomal enzyme activities mimicking mucolipidosis II or III, in whom a diagnosis of hereditary fructose intolerance (HFI) was ultimately obtained. She presented before introduction of solid foods, given her consumption of a fructose-containing infant formula. We present the most extensive panel of lysosomal enzyme activities reported to date in a patient with HFI, and propose that multiple enzyme elevations in plasma, especially when in conjunction with a normal plasma α-mannosidase activity, should elicit a differential diagnosis of HFI...
February 2017: American Journal of Medical Genetics. Part A
Jigar R Desai, Craig L Hyde, Shaum Kabadi, Matthew St Louis, Vinicius Bonato, A Katrina Loomis, Aaron Galaznik, Marc L Berger
BACKGROUND: Opportunities to leverage observational data for precision medicine research are hampered by underlying sources of bias and paucity of methods to handle resulting uncertainty. We outline an approach to account for bias in identifying comorbid associations between 2 rare genetic disorders and type 2 diabetes (T2D) by applying a positive and negative control disease paradigm. RESEARCH DESIGN: Association between 10 common and 2 rare genetic disorders [Hereditary Fructose Intolerance (HFI) and α-1 antitrypsin deficiency] and T2D was compared with the association between T2D and 7 negative control diseases with no established relationship with T2D in 4 observational databases...
March 2017: Medical Care
Anna Maitre, Anna Maw, Uma Ramaswami, Sarah L Morley
BACKGROUND: A severe neurological abnormality has not been previously described in individuals with hereditary fructose intolerance, which typically presents early in childhood with severe metabolic acidosis and hypoglycemia. PATIENT DESCRIPTION: We describe a boy who by age five years had required multiple admissions to the pediatric intensive care unit for an aggressive and atypical, relapsing and remitting neuropathy with features of acute motor axonal neuropathy (AMAN)...
November 2016: Pediatric Neurology
Jens-Peter Schenk, Buket Selmi, Christa Flechtenmacher, Saroa El Sakka, Ulrike Teufel, Guido Engelmann
PURPOSE: To determine the value of real-time tissue elastography (RTE) in pediatric liver diseases in comparison to liver biopsy. METHODS: RTE was performed on 34 patients (♀, n = 17; ♂, n = 17; range 0-21 years) with various acute and chronic liver diseases: autoimmune hepatitis (n = 5), liver transplantation (n = 5), Wilson's disease (n = 4), hepatopathy of unknown origin (n = 4), unclear cholestatic hepatitis (n = 2), thalassemia major (n = 2), glycogenosis (n = 2), hereditary fructose intolerance (n = 1), alpha-1-antitrypsin deficiency (n = 1), diabetes mellitus type 1 (n = 1), chronic intestinal pseudo-obstruction (n = 1), primary sclerosing cholangitis (n = 1), hepatitis B (n = 1), cirrhosis of unknown origin (n = 1), drug-induced hepatopathy (n = 1), unexplained transaminase elevation (n = 1), and nonalcoholic steatohepatitis (n = 1)...
October 2014: Journal of Medical Ultrasonics
Eugênia Ribeiro Valadares, Ana Facury da Cruz, Talita Emile Ribeiro Adelino, Viviane de Cássia Kanufre, Maria do Carmo Ribeiro, Maria Goretti Moreira Guimarães Penido, Luciano Amedee Peret Filho, Laís Maria Santos Valadares E Valadares
No abstract text is available yet for this article.
September 2015: Molecular Genetics and Metabolism Reports
Ernesto António Macongonde, Thais Ceresér Vilela, Giselli Scaini, Cinara Ludvig Gonçalves, Bruna Klippel Ferreira, Naithan Ludian Fernandes Costa, Marcos Roberto de Oliveira, Silvio Avila Junior, Emilio Luiz Streck, Gustavo Costa Ferreira, Patrícia Fernanda Schuck
Hereditary fructose intolerance (HFI) is an autosomal-recessive disorder characterized by fructose and fructose-1-phosphate accumulation in tissues and biological fluids of patients. This disease results from a deficiency of aldolase B, which metabolizes fructose in the liver, kidney, and small intestine. We here investigated the effect of acute fructose administration on the activities of mitochondrial respiratory chain complexes, succinate dehydrogenase (SDH), and malate dehydrogenase (MDH) in cerebral cortex, liver, kidney, and skeletal muscle of male 30-day-old Wistar rats...
2015: Disease Markers
Ernesto A Macongonde, Naithan L F Costa, Bruna K Ferreira, Mairis S Biella, Marisa J S Frederico, Marcos R de Oliveira, Silvio Ávila Júnior, Fátima R M B Silva, Gustavo C Ferreira, Emilio L Streck, Patrícia F Schuck
Fructose accumulates in tissue and body fluids of patients affected by hereditary fructose intolerance (HFI), a disorder caused by the deficiency of aldolase B. We investigated the effect of acute fructose administration on the biochemical profile and on the activities of the Krebs cycle enzymes in the cerebral cortex of young rats. Rats received a subcutaneous injection of NaCl (0.9 %; control group) or fructose solution (5 μmol/g; treated group). Twelve or 24 h after the administration, the animals were euthanized and the cerebral cortices were isolated...
August 2015: Anais da Academia Brasileira de Ciências
Steven J Schrodi, Andrea DeBarber, Max He, Zhan Ye, Peggy Peissig, Jeffrey J Van Wormer, Robert Haws, Murray H Brilliant, Robert D Steiner
Genetic methods can complement epidemiological surveys and clinical registries in determining prevalence of monogenic autosomal recessive diseases. Several large population-based genetic databases, such as the NHLBI GO Exome Sequencing Project, are now publically available. By assuming Hardy-Weinberg equilibrium, the frequency of individuals homozygous in the general population for a particular pathogenic allele can be directly calculated from a sample of chromosomes where some harbor the pathogenic allele...
June 2015: Human Genetics
Sarah A Oppelt, Erin M Sennott, Dean R Tolan
The rise in fructose consumption, and its correlation with symptoms of metabolic syndrome (MBS), has highlighted the need for a better understanding of fructose metabolism. To that end, valid rodent models reflecting the same metabolism as in humans, both biochemically and physiologically, are critical. A key to understanding any type of metabolism comes from study of disease states that affect such metabolism. A serious defect of fructose metabolism is the autosomal recessive condition called hereditary fructose intolerance (HFI), caused by mutations in the human aldolase B gene (Aldob)...
March 2015: Molecular Genetics and Metabolism
Sunita Bijarnia-Mahay, Sireesha Movva, Neerja Gupta, Deepak Sharma, Ratna D Puri, Udhaya Kotecha, Renu Saxena, Madhulika Kabra, Neelam Mohan, Ishwar C Verma
Hereditary fructose intolerance (HFI) is a difficult-to-confirm diagnosis, requiring either invasive liver biopsy-enzyme assay or potentially hazardous fructose challenge test or expensive molecular genetic analysis. Therefore, worldwide there has been a trend towards finding "common mutations" in distinct ethnic groups to simplify the process of diagnosis. The nonspecific presentation of the disease often leads to diagnostic confusion with other metabolic liver disorders such as glycogenoses, galactosemia, and tyrosinemia...
2015: JIMD Reports
Alessandro Fiocchi, Carlo Dionisi-Vici, Giovanna Cotugno, Pierluigi Koch, Lamia Dahdah
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...
August 2014: Pediatrics
Abigail Lopes, Thais Ceresér Vilela, Luciane Taschetto, Franciele Vuolo, Fabricia Petronilho, Felipe Dal-Pizzol, Emilio Luiz Streck, Gustavo Costa Ferreira, Patrícia Fernanda Schuck
Hereditary fructose intolerance is an autosomal recessive disorder characterized by the accumulation of fructose in tissues and biological fluids of patients. The disease results from a deficiency of aldolase B, responsible for metabolizing fructose in the liver, kidney, and small intestine. We investigated the effect of acute fructose administration on oxidative stress and neuroinflammatory parameters in the cerebral cortex of 30-day-old Wistar rats. Animals received subcutaneous injection of sodium chloride (0...
December 2014: Molecular Neurobiology
Lynne Rumping, Hans R Waterham, Irene Kok, Peter M van Hasselt, Gepke Visser
BACKGROUND: Hereditary fructose intolerance (HFI) is a rare metabolic disease affecting fructose metabolism. After ingestion of fructose, patients may present with clinical symptoms varying from indefinite gastrointestinal symptoms to life-threatening hypoglycaemia and hepatic failure. CASE DESCRIPTION: A 13-year-old boy was referred to the department of metabolic diseases because of an abnormal fructose loading test. He was known with persistent gastrointestinal symptoms since infancy...
2014: Nederlands Tijdschrift Voor Geneeskunde
Adam Sun, Wolfgang Teschner, Leman Yel
Various types of excipients are added to immunoglobulin preparations to stabilize the product and prevent aggregation and dimer formation. These excipients, which are also called stabilizers or additives, are not inert chemicals and may have clinical implications. This is one reason why immunoglobulin products are not interchangeable. Herein, immunoglobulin preparation, excipient types and the differences among sugar stabilizers and the amino acids, glycine and proline as excipients, are presented. Preclinical studies that unravel the complexities of dimer reduction are summarized...
June 2013: Expert Review of Clinical Immunology
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