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Hereditary fructose intolerance

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)...
August 2, 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
Lorenzo Ferri, Anna Caciotti, Catia Cavicchi, Miriam Rigoldi, Rossella Parini, Marina Caserta, Guido Chibbaro, Serena Gasperini, Elena Procopio, Maria Alice Donati, Renzo Guerrini, Amelia Morrone
Mutations in the ALDOB gene impair the activity of the hepatic aldolase B enzyme, causing hereditary fructose intolerance (HFI), an inherited autosomic recessive disease of carbohydrate metabolism, that can result in hypoglycemia, liver and kidney failure, coma, and death. Noninvasive diagnosis is possible by identifying mutant ALDOB alleles in suspected patients. We report the genetic characterization of a cohort of 18 HFI Caucasian patients, based on PCR-sequencing and Multiplex Ligation-dependent Probe Amplification (MLPA), with the identification of two novel genetic lesions: a small duplication c...
2012: JIMD Reports
Giulia Paolella, Pasquale Pisano, Raffaele Albano, Lucio Cannaviello, Carolina Mauro, Gabriella Esposito, Pietro Vajro
We report a case with the association of well self-compensated hereditary fructose intolerance and still poorly symptomatic Duchenne type muscular dystrophy. This case illustrates the problems of a correct diagnosis in sub-clinical patients presenting with "cryptogenic" hypertransaminasemia.
2012: Italian Journal of Pediatrics
N Ananth, G S Praveenkumar, K Aravind Rao, Vasanthi, Srinivas Kakkilaya
Hereditary fructose intolerance is a rare cause of hepatic cirrhosis in the young. The disorder has a reported frequency of 1 in 20000 live births and no case has been reported from India so far. We report two cases of hereditary fructose intolerance, both with bilateral cataracts and one with cirrhosis of the liver.
July 2003: Indian Journal of Clinical Biochemistry: IJCB
Lalit Bharadia, Deepak Shivpuri
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 two distinct genetic gastrointestinal disorders is important as treatment failure of celiac disease calls for careful evaluation for hereditary fructose intolerance. We report a patient with an association of these two disorders...
April 2012: Indian Journal of Gastroenterology: Official Journal of the Indian Society of Gastroenterology
Hae-Won Choi, Yeoun Joo Lee, Seak Hee Oh, Kyung Mo Kim, Jeong-Min Ryu, Beom Hee Lee, Gu-Hwan Kim, Han-Wook Yoo
Hereditary fructose intolerance is an autosomal recessive disorder that is caused by a deficiency in fructose-1-phosphate aldolase (Aldolase B). Children can present with hypoglycemia, jaundice, elevated liver enzymes and hepatomegaly after intake of dietary fructose. Long-term intake of fructose in undiagnosed patients can result in hepatic failure or renal failure. We experienced a case of hereditary fructose intolerance presenting as recurrent hepatitis-like episodes. Detailed evaluation of her dietary habits revealed her avoidance of sweetened foods and fruits...
January 2012: Gut and Liver
Mortada H F El-Shabrawi, Naglaa M Kamal
The management of children with chronic liver disease (CLD) mandates a multidisciplinary approach. CLDs can be classified into 'potentially' curable, treatable non-curable, and end-stage diseases. Goals pertaining to the management of CLDs can be divided into prevention or minimization of progressive liver damage in curable CLD by treating the primary cause; prevention or control of complications in treatable CLD; and prediction of the outcome in end-stage CLD in order to deliver definitive therapy by surgical procedures, including liver transplantation...
December 1, 2011: Paediatric Drugs
Jack D Stopa, Sushil Chandani, Dean R Tolan
Hereditary fructose intolerance (HFI) is a disease of carbohydrate metabolism that can result in hyperuricemia, hypoglycemia, liver and kidney failure, coma, and death. Currently, the only treatment for HFI is a strict fructose-free diet. HFI arises from aldolase B deficiency, and the most predominant HFI mutation is an alanine to proline substitution at position 149 (A149P). The resulting aldolase B with the A149P substitution (AP-aldolase) has activity that is <100-fold that of the wild type. The X-ray crystal structure of AP-aldolase at both 4 and 18 °C reveals disordered adjacent loops of the (α/β)(8) fold centered around the substitution, which leads to a dimeric structure as opposed to the wild-type tetramer...
February 8, 2011: Biochemistry
M G Donner, A Erhardt, D Häussinger
No abstract text is available yet for this article.
December 2010: Deutsche Medizinische Wochenschrift
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