fructose intolerance/crise epiléptica

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[Adults with hereditary fructose intolerance: risks of fructose infusion].

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After her first grand mal seizure a 30-year-old woman was given a fructose infusion by an emergency doctor. On admission to hospital she complained of severe nausea. Ultrasonography revealed hepatosplenomegaly and the gamma-GT concentration was raised to 25 U/l. As hyperinsulinism was suspected an

Hereditary fructose intolerance presenting as Reye's-like syndrome: report of one case.

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Hereditary fructose intolerance (HFI) is an autosomal recessive disease caused by catalytic deficiency of aldolase B (fructose-1, 6-bisphosphate aldolase). Herein we report on a case of hereditary fructose intolerance with initial presentation of episodic unconsciousness, seizure, hypoglycemia,

Genetic disorder in carbohydrates metabolism: hereditary fructose intolerance associated with celiac disease.

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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

Treatment of convulsive status epilepticus with propofol: case report.

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BACKGROUND Convulsive status epilepticus (CSE) refractory to treatment with benzodiazepines, phenobarbital, and phenytoin presents a challenge to pediatric emergency and critical care specialists. Prompt seizure control may prevent mortality and morbidity. METHODS A nine-month-old girl with

Management and emergency treatments of neonates with a suspicion of inborn errors of metabolism.

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During the neonatal period, inborn errors of metabolism mostly present with an overwhelming illness that requires prompt diagnosis and both supportive and specific treatments. The most frequent situations are due to branched-chain organic acidurias that present with ketoacidosis and urea cycle

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