Hereditary Fructose Intolerance DNA Test

Are you a genetic carrier for hereditary fructose intolerance? Find out with this DNA Test.

  • Detects four ALDOB variants which cause hereditary fructose intolerance
  • Characterized by an inability to digest the fruit sugar fructose
  • Carrier screening test intended for couples who are planning to become pregnant
  • 100% private and confidential online results

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Detailed Description

Hereditary fructose intolerance is an inherited metabolic disorder characterized by an inability to digest the fruit sugar, fructose. This leads to the accumulation of fructose-1-phosphate in affected people, causing low blood sugar, stomach pain and vomiting after consumption of fructose.

Fructose intolerance is not the same as fructose malabsorption. People with fructose malabsorption are unable to absorb fructose in their intestine, whereas individuals with fructose intolerance are unable to break down fructose, due to inhibited function of the aldolase B enzyme. 

Take this test to find out if you are a genetic carrier of an ALDOB variant and are at risk of passing it to your children. 

The Genetics

Hereditary fructose intolerance is caused by genetic variation in the ALDOB gene. This gene provides instructions for the aldolase B enzyme, which is involved in the second step of the fructose metabolism pathway – the breakdown of fructose-1-phosphate to dihydroxyacetone phosphate and glyceraldehyde.

People with fructose intolerance produce an aldolase B enzyme with reduced activity leading to the accumulation of fructose-1-phosphate. The toxic buildup of fructose-1-phosphate and the inability to produce sufficient energy to maintain blood sugar levels results in the characteristic symptoms of fructose intolerance.

Hereditary fructose intolerance is inherited in an autosomal recessive pattern, which means two defective copies of the ALDOB gene must be inherited in order for the disease to manifest.

Variants Tested

This test detects four genetic variants in the ALDOB gene that account for approximately 85% of carriers of European descent. 

  • rs1800546 G (A149P)
  • rs76917243 T (A175D)
  • rs78340951 C (N334K)
  • rs387906225 deletion (Delta4E4)

Understanding your carrier status for these variants will help you understand the risk of passing a variant to your children.

Signs and Symptoms

Fructose ingestion causes:

  • Nausea and vomiting
  • Low blood sugar (hypoglycemia)
  • Abdominal pain
  • Bloating
  • Diarrhea
  • Irritability

Repeated fructose ingestion can lead to:

  • Liver and kidney disease
  • Seizures
  • Coma and death

How It Works

Step 1: Sign up for a free DNA Access account.
Step 2: Upload your DNA markers to DNA Access.
Step 3: Log in to your account to access your results when they are ready.