Hereditary fructose intolerance

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Overview

Hereditary fructose intolerance (HFI) or fructose poisoning is a hereditary condition caused by a deficiency of liver enzymes that metabolise fructose.

Historical Perspective

Classification

Pathophysiology

Presentation

If fructose is ingested, other symptoms such as vomiting, hypoglycemia, jaundice, hemorrhage, hepatomegaly, hyperuricemia and eventually kidney failure will follow.

Causes

The deficient enzyme is aldolase-B, which converts fructose-1-phosphate to DHAP and glyceraldehyde. This means that the fructose cannot be further metabolised beyond fructose-1-phosphate. This traps phosphates; which are needed to phosphorylate glycogen phosphorylase which carries on to release units of glucose-1-phosphate from glycogen. (Glucose-1-phosphate gets converted to glucose-6-phosphate and then dephosphorylated to form glucose).

In addition, aldolase-B plays an important role in gluconeogenesis, producing fructose-1,6-bisphosphate from glyceraldehyde-3-phosphate and DHAP. Thus, glucose cannot be released through the breakdown of glycogen nor can it be synthesized from gluconeogenesis, resulting in severe hypoglycemia. Hereditary fructose intolerance is inherited. If both parents are carriers for aldolase B gene, each of their children has a 25% (1 in 4) chance of being affected.

Differentiating Hereditary fructose intolerance from Other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications, and Prognosis

Diagnosis

Diagnostic Criteria

History and Symptoms

Physical Examination

Laboratory Findings

Imaging Findings

Other Diagnostic Studies

Treatment

Treatment is with a fructose free diet, which if adhered to, is concordant with a good prognosis. ^[1]

Fructose and sucrose eliminated from diet. ^[2]

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Related conditions

Hereditary fructose intolerance should not be confused with fructose malabsorption. The latter is the same as dietary fructose intolerance (DFI), a deficiency of fructose transporter enzyme in the enterocytes, which leads to abdominal bloating, diarrhea and/or constipation.

External links

References

Template:Endocrine, nutritional and metabolic pathology

de:Fruktoseintoleranz

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