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Key Features

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  • An autosomal recessive disorder in which deficient activity of fructose-1-phosphate aldolase causes hypoglycemia and tissue accumulation of fructose-1-phosphate on fructose ingestion

  • Can progress to death from liver failure if left untreated

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Clinical Findings

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  • Failure to thrive

  • Vomiting

  • Jaundice

  • Hepatomegaly

  • Proteinuria

  • Renal Fanconi syndrome

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Diagnosis

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  • Finding fructosuria or an abnormal transferrin glycoform in the untreated patient suggests diagnosis

  • Diagnosis is made by sequencing the HFI gene

  • Enzyme assay of fructose-1-phosphate aldolase in liver biopsy is alternative method for diagnosis

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Treatment

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  • Strict dietary avoidance of fructose

  • Vitamin supplementation is usually needed

  • Drugs and vitamins dispensed in a sucrose base should be avoided

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