No abstract available.
Diagnosis* ; Fructose Intolerance*

Child, Preschool ; Female ; Fructose Intolerance ; pathology ; Humans

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. Genetic analysis of ALDOB revealed that she is a homozygote for a novel frameshifting mutation c[758_759insT]+[758_759insT] (p.[val25 3fsX24]+[val253fsX24]). This report is the first of a Korean patient diagnosed with hereditary fructose intolerance using only molecular testing without undergoing intravenous fructose tolerance test or enzyme assay.
Child ; Enzyme Assays ; Food Habits ; Frameshift Mutation ; Fructose ; Fructose Intolerance ; Fructose-Bisphosphate Aldolase ; Fructosephosphates ; Fruit ; Hepatitis ; Hepatomegaly ; Homozygote ; Humans ; Hypoglycemia ; Jaundice ; Liver ; Liver Failure ; Renal Insufficiency

Hereditary fructose intolerance(HFI) is an autosomal recessive disease caused by catalytic deficiency of aldolase B in which affected homozygotes develop hypoglycemia and abdominal symptoms after taking foods containing fructose. Chronic exposure to fructose may lead to progressive hepatic injury, renal injury, growth retardation, and ultimately to liver and kidney failure. Herein, we report a case of HFI with presentation of episodic vomiting, diarrhea, cold sweating, abnormal liver function and failure to thrive after 12 months of her age. She developed an aversion to fruits and sweet-tasting foods. When she was admitted to hospital at the age of 30 months, hepatomegaly, and dysfunction of proximal renal tubule with renal tubular acidosis were noted. We confirmed the diagnosis via enzyme assay on biopsied liver and intestine. A fructose restrictied diet was recommended. The patient has been symptom free with normal liver functions since then.
Acidosis, Renal Tubular ; Diagnosis ; Diarrhea ; Diet ; Enzyme Assays ; Failure to Thrive ; Fructose ; Fructose Intolerance* ; Fructose-Bisphosphate Aldolase ; Fruit ; Hepatomegaly ; Homozygote ; Humans ; Hypoglycemia ; Intestines ; Kidney Tubules, Proximal ; Liver ; Renal Insufficiency ; Sweat ; Sweating ; Vomiting

Hereditary fructose intolerance (HFI) is a carbohydrate metabolic disease of autosomal recessive inheritance. The basic deficit is deficiency of aldolase B, the enzyme catalyzing catabolism of fructose-1-phosphate, which is found only in intestinal mucosa, liver and kidney. Its main symptoms are abdominal pain, vomiting, hypoglycemia, and severe liver disease following the ingestion of fructose. Neurologic impairment is not typical in HFI, but it can occur in the acute phase of the disease. Neurologic impairment is related to the acute hepatic toxicity of fructose (hypoglycemia, abnormal coagulation, cardiovascular collapse). The 7 year-old German girl admitted because of generalized tonic clonic seizure. She had the first seizure at the age of 2, and was diagnosed as Lennox-Gastaut syndrome. Thereafter, frequent morning and midnight seizures were developed following indigestion of milk, sweety cake and cookies. Her family history was unknown because she was adopted from India at the 4 months of age. She showed developmental delay. After the ingestion of fructose, the patient experienced hypoglycemic episode within 60-90 minutes of the intake. Based on this finding, she was diagnosed as HFI. With fructose free diet, the patient became free of seizure even without the anticonvulsant, and improved in growth and development.
Abdominal Pain ; Child ; Diet ; Dyspepsia ; Eating ; Female ; Fructose ; Fructose Intolerance* ; Fructose-Bisphosphate Aldolase ; Growth and Development ; Humans ; Hypoglycemia ; India ; Intestinal Mucosa ; Kidney ; Liver ; Liver Diseases ; Metabolic Diseases ; Metabolism ; Milk ; Seizures ; Vomiting ; Wills

Irritable bowel syndrome (IBS) is a multifactorial disorder with the pathogenesis of abnormal gastrointestinal motility, low-grade inflammation, visceral hypersensitivity, communication in the gut-brain axis, and so on. Traditionally, IBS has been treated with dietary and lifestyle modification, fiber supplementation, pharmacological and psychological therapy. Carbohydrates have a range of foods regularly consumed including grains such as rye and wheat, vegetables, fruits, and legumes. Short-chain carbohydrates poorly absorbed exert osmotic effects in the intestinal lumen increasing its water volume, and are rapidly fermented by bacteria with consequent gas production. These effects may be the basis of the beginning of gastrointestinal symptoms. This made the use of lactose-free diets in those with lactose intolerance and of fructose-reduced diets for fructose malabsorption. All dietary poorly absorbed short-chain carbohydrates have similar and additive effects in the intestine, so a concept has been developed to regard them collectively as fermentable oligosaccharides, disaccharides, monosaccharides and polyols (FODMAPs) and to evaluate a dietary approach that restricts them all. Based on observational and comparative studies and on randomized-controlled trials, FODMAPs trigger gastrointestinal symptoms in patients with IBS. Food choice via the low FODMAP and potentially other dietary strategies is now a realistic and efficacious therapeutic approach for symptoms of IBS. In Korea, the strategy of Korean diet for Korean patients with IBS needs apposite to the Korean cases.
Axis, Cervical Vertebra ; Bacteria ; Carbohydrates ; Edible Grain ; Diet* ; Disaccharides ; Fabaceae ; Fructose ; Fruit ; Gastrointestinal Diseases* ; Gastrointestinal Motility ; Humans ; Hypersensitivity ; Inflammation ; Intestines ; Irritable Bowel Syndrome* ; Korea ; Lactose Intolerance ; Life Style ; Monosaccharides ; Oligosaccharides ; Secale ; Triticum ; Vegetables ; Water