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hereditary fructose intolerance syndrome

MeSH: D005633ORPHA: 469

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

inborn error of fructose metabolism caused by a deficiency of the enzyme aldolase B

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with hereditary fructose intolerance syndrome, sourced from HPO and Orphanet clinical annotations.

Abdominal painReduced circulating aldolase concentrationGrowth delayDiarrheaNauseaRenal insufficiencyJaundiceEpisodic hyperhidrosisMetabolic acidosisVomitingConstipationHypophosphatemiaHyperuricemiaHepatomegalyHypermagnesemiaAbnormality of the coagulation cascadeAbdominal distentionReactive hypoglycemiaChronic kidney diseaseChronic hepatic failureCataractSeizureLethargyComa

Classification & Codes

MeSH Code

D005633

Orphanet Code

ORPHA:469
hereditary fructose intolerance syndrome
MeSHD005633
OrphanetORPHA:469
Treatments0 drug(s)
Symptoms on record24 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO