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Title
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Hereditary fructose intolerance
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ImagePath
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System
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fructose metabolism disorder
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Overview
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Autosomal‑recessive deficiency of aldolase B leading to toxic buildup of fructose‑1‑phosphate; traps phosphate, blocks glycogenolysis & gluconeogenesis → profound fasting hypoglycemia.
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Pathophysiology
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Lack of hepatic aldolase B prevents cleavage of fructose‑1‑P → intracellular phosphate sequestration, ↓ ATP, inhibition of glycogen phosphorylase & fructose‑1,6‑bisphosphatase; hepatocellular injury & metabolic crisis on fructose ingestion.
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Presentation
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Healthy breast‑fed infant develops vomiting, lethargy, diaphoresis, seizures, jaundice, hepatomegaly minutes–hours after first exposure to fructose‑ or sucrose‑containing foods (eg, fruit juice, honey, baby food). May progress to liver failure & renal Fanconi‑like syndrome.
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Diagnosis
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Hypoglycemia with ↓ phosphate after fructose load, positive urinary reducing sugars with negative glucose oxidase dipstick; genetic testing of ALDOB or enzymatic assay in cultured fibroblasts.
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Management
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Strict lifelong elimination of fructose, sucrose, and sorbitol; rapid IV dextrose during crises; dietary counselling and emergency plan for accidental ingestion.
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Epidemiology
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≈1 : 20 000 live births; presents after weaning; carrier frequency highest in Europeans.
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Tags
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