Intestinal fructose malabsorption is associated with increased lactulose fermentation in the intestinal lumen / Má absorção intestinal de frutose associa-se com maior fermentação de lactulose na luz intestinal

Abstract Objective: To study fructose malabsorption in children and adolescents with abdominal pain associated with functional gastrointestinal disorders. As an additional objective, the association between intestinal fructose malabsorption and food intake, including the estimated fructose consumption, weight, height, and lactulose fermentability were also studied. Methods: The study included 31 patients with abdominal pain (11 with functional dyspepsia, 10 with irritable bowel syndrome, and 10 with functional abdominal pain). The hydrogen breath test was used to investigate fructose malabsorption and lactulose fermentation in the intestinal lumen. Food consumption was assessed by food registry. Weight and height were measured. Results: Fructose malabsorption was characterized in 21 (67.7%) patients (nine with irritable bowel syndrome, seven with functional abdominal pain, and five with functional dyspepsia). Intolerance after fructose administration was observed in six (28.6%) of the 21 patients with fructose malabsorption. Fructose malabsorption was associated with higher (p < 0.05) hydrogen production after lactulose ingestion, higher (p < 0.05) energy and carbohydrate consumption, and higher (p < 0.05) body mass index z-score value for age. Median estimates of daily fructose intake by patients with and without fructose malabsorption were, respectively, 16.1 and 10.5 g/day (p = 0.087). Conclusion: Fructose malabsorption is associated with increased lactulose fermentability in the intestinal lumen. Body mass index was higher in patients with fructose malabsorption.

Resumo Objetivo: Pesquisar a má absorção de frutose em crianças e adolescentes com dor abdominal associada com distúrbios funcionais gastrintestinais. Como objetivo adicional, estudou-se a relação entre a má absorção intestinal de frutose e a ingestão alimentar, inclusive a estimativa de consumo de frutose, o peso e a estatura dos pacientes e a capacidade de fermentação de lactulose. Métodos: Foram incluídos 31 pacientes com dor abdominal (11 com dispepsia funcional, 10 com síndrome do intestino irritável e 10 com dor abdominal funcional). O teste de hidrogênio no ar expirado foi usado para pesquisar a má absorção de frutose e a fermentação de lactulose na luz intestinal. O consumo alimentar foi avaliado por registro alimentar. Foram mensurados também o peso e a estatura dos pacientes. Resultados: Má absorção de frutose foi caracterizada em 21 (67,7%) pacientes (nove com síndrome do intestino irritável, sete com dor abdominal funcional e cinco com dispepsia funcional). Intolerância após administração de frutose foi observada em seis (28,6%) dos 21 pacientes com má absorção de frutose. Má absorção de frutose associou-se com maior produção de hidrogênio após ingestão de lactulose (p < 0,05), maior consumo de energia e carboidratos (p < 0,05) e maior valor de escore z de IMC para a idade (p < 0,05). As medianas da estimativa de ingestão diária de frutose pelos pacientes com e sem má absorção de frutose foram, respectivamente, 16,1 e 10,5 g/dia (p = 0,087). Conclusão: Má absorção de frutose associa-se com maior capacidade de fermentação de lactulose na luz intestinal. O índice de massa corporal foi maior nos pacientes com má absorção de frutose.

Optimal Testing for Diagnosis of Fructose Intolerance: Over-dosage Leads to False Positive Intolerance Test

No abstract available.

A Novel Frameshift Mutation of the ALDOB Gene in a Korean Girl Presenting with Recurrent Hepatitis Diagnosed as Hereditary Fructose Intolerance

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.

Alteraciones del metabolismo de la fructosa / Fructose metabolism defects

Las alteraciones en el metabolismo de la fructosa se producen por 3 defectos enzimáticos. 1.- Por deficiencia de fructoquinasa, la que no genera ningún síntoma clínico y por tanto no requiere tratamiento. 2.- La deficiencia de la aldolasa B, que ocasiona la Intolerancia Hereditaria a la Fructosa, e impide la transformación de la fructosa-1-fosfato en fructosa 1,6 difosfato. El cuadro clínico se manifiesta cuando se introduce azúcar en la dieta, apareciendo náuseas, vómitos, palidez, sudoración, temblor, letargia, convulsiones, hipoglicemia, daño hepático, ictericia, edema y ascitis. El tratamiento consiste en eliminar la fructosa de la dieta, como sacarosa (glucosa y fructosa), fructosa libre, sorbitol. El tratamiento si se entrega precozmente tiene excelente resultado, desaparecen los vómitos y se normaliza la disfunción renal. 3.- La deficiencia de fructosa 1-6-difosfatasa que transforma la glucosa a partir de todos los sustratos neoglucogénicos, lactato, glicerol y alanina y también la fructosa de la dieta, se caracteriza por presentar acidosis láctica, hipoglicemia, disnea, taquicardia, apnea, irritabilidad, letargia, coma, convulsiones. El tratamiento consiste en prevenir las hipoglicemias y la neoglucogénesis, evitando el ayuno prolongado y proporcionando una dieta fraccionanda.

Tolerância hereditária à frutose: causa de vômitos recorrentes na infância / Hereditary fructose intolerance: cause of recurrent vomiting in childhood

A intolerância hereditária à frutose é uma doença metabólica infrequente que apresenta sintomas gastrointestinais acompanhados de hipoglicemia, devendo ser considerada na investigação de vomitos recorrentes de etiologia desconhecida em crianças e adultos jovens. Entretanto, por ser pouco comum, essa possibilidade é frequentemente esquecida na elaboração do diagnostico diferencial, o que pode fazer casos passarem despercebidos, pretelando o tratamento o aumentando o custo do diagnóstico. Com o objetivo de resaltar a importância de considerar a intolerância à frutose na elaboração do diagnóstico diferencial, relata-se um caso dessa doença diagnosticado em uma menina de nove anos de idade que aprentava vômitos recorrentes desde o período do desmame. Após o diagnóstico de intolerância hereditária à frutose, surgiram queixas ósseas que possivelmente estão ligadas a essa doença. A fisiopatologia e as medidas diagnósticas e terapêuticas são discutidas

A Case of Hereditary Fructose Intolerance

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.

A Case of Hereditary Fructose Intolerance / 대한소아신경학회지

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.

Pruebas de laboratorio útiles para el control de la diabetes mellitus: hemoglobina glucosilada / Laboratory tests used in diabetes mellitus control: glycosilated hemoglobin

La diabetes mellitus es una enfermedad crónica que requiere del cuidado médico constante y de la educación tanto del paciente como de sus familiares. Para su control, el médico se apoya en unas serie de pruebas de laboratorio entre las cuales la hemoglobina glucosilada (HbA1C) juega un papel importante. Esta prueba tiene la ventaja de monitorear las condiciones metabólicas del paciente en las ocho semanas precedentes permitiendo así conocer con mayor certeza la calidad del control de la diabetes. La determinación de hemoglobina glucosilada se debe realizar cada tres o cuatro meses y los valores estimados como normales son de 3 a 6 por ciento

Determinación de substancias reductoras en la orina como método inicial para el diagnóstico temprano de galactosemia e intolerancia hereditaria a la fructuosa en niños con hepatitis / Determination of the reducing substances in the urine as a diagnostic method for galactosemia and fructose intolerance in children with neonatal hepatitis

La determinación de substancias reductoras en orina, se realizó en 40 niños con hepatitis neonatal utilizando, para ello, la prueba de Clinitest y Benedict. Sólo en dos niños se obtuvo como resultado una reacción falsa positiva. Se concluye que el clinitest es un método sencillo, práctico, económico y de gran utilidad para la detección temprana e inicial de galactosemia e intolerancia a la fructuosa. Las que deberán corroborarse en caso necesario posteriormente con un estudio metabólico completo