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Book

Fructose-1-Phosphate Aldolase Deficiency

Umair Ahmad  1 , Jyotsna Sharma  2
In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan.
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Book

Fructose-1-Phosphate Aldolase Deficiency

Umair Ahmad et al.
Free Books & Documents

Excerpt

Fructose 1-phosphate aldolase deficiency or hereditary fruc­tose intol­er­ance (HFI) is an auto­so­mal reces­sive dis­order, caused by the deficiency in aldolase B (fructose-1, 6-bisphosphate aldolase), an enzyme responsible for the cleavage of fructose-1-phosphate. HFI is a metabolic disorder that usually manifests around 4-6 months of age when weaning is started. The inheritance pattern is autosomal recessive, and there is a 25% chance of having a child with HFI if both parents are heterozygotes.

The mainstay of treatment is the dietary restriction of fructose, sorbitol, and sucrose. Life expectancy is normal in these individuals if appropriate precautionary measures are taken. The disorder leads to a toxic accumulation of fructose-1-phosphate in the liver and renal tubules.

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Conflict of interest statement

Disclosure: Umair Ahmad declares no relevant financial relationships with ineligible companies.

Disclosure: Jyotsna Sharma declares no relevant financial relationships with ineligible companies.

References

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