ALDOB rs786204503: Understanding Hereditary Fructose Intolerance
The rs786204503 variant is a rare genetic mutation located within the ALDOB gene. It is classified as a pathogenic variant associated with hereditary fructose intolerance, a metabolic condition that affects how the body processes fructose.
What each genotype means
Typical ALDOB genotype
This genotype represents the common, non-mutated sequence for this specific location in the ALDOB gene. Individuals with this result do not carry this specific pathogenic variant associated with hereditary fructose intolerance.
This is the most common genotype found in the general population.
Carrier of fructose intolerance mutation
You carry one copy of this pathogenic variant in the ALDOB gene. Hereditary fructose intolerance is an autosomal recessive condition, meaning that being a carrier typically does not cause symptoms, provided you do not have a second pathogenic mutation in the other copy of the gene.
This genotype is rare in the general population.
Potential hereditary fructose intolerance
This genotype indicates the presence of two copies of this pathogenic variant. This is associated with hereditary fructose intolerance, a condition where the body cannot properly process fructose, leading to toxic buildup in the liver when fructose or sucrose is consumed. Please consult with a medical professional or genetic counselor to discuss these results and any necessary dietary management.
This genotype is very rare, as the condition itself has an estimated global incidence of 1 in 20,000 to 60,000 individuals.
Understanding the rs786204503 Variant
The rs786204503 variant is a specific change in the DNA sequence of the ALDOB gene, which is located on chromosome 9. In genetics, a variant like this represents a single-letter difference in the genetic code compared to the most common sequence found in the human population. Because this variant is located within a gene that provides critical instructions for metabolic enzymes, researchers monitor it closely. It is categorized as a pathogenic mutation, meaning that its presence is linked to a known clinical condition. Genetic variants are identified by their unique reference SNP ID (rsID), which allows scientists to track and study them across different research databases. While many variants in the human genome have no known effect on health, rs786204503 is specifically recognized for its potential to disrupt normal biological processes.
The Role of the ALDOB Gene
The ALDOB gene is responsible for producing an enzyme called aldolase B. This enzyme is primarily active in the liver, where it plays a vital role in the metabolism of fructose, a simple sugar found in many fruits, vegetables, and sweeteners. Under normal conditions, aldolase B helps break down fructose-1-phosphate into smaller molecules that the body can use for energy. When the ALDOB gene contains a pathogenic mutation, the resulting aldolase B enzyme may be unstable, misshapen, or produced in insufficient quantities. Without a functional enzyme, fructose-1-phosphate can accumulate to toxic levels within liver cells. This accumulation can lead to cellular damage and the symptoms associated with hereditary fructose intolerance. Because the liver is the primary site for this metabolic pathway, the health impacts of ALDOB mutations are often concentrated in the liver and digestive system.
Research and Clinical Significance
Scientific research has established a strong link between pathogenic ALDOB variants and hereditary fructose intolerance. This condition is inherited in an autosomal recessive pattern, meaning an individual typically needs to inherit two copies of a pathogenic variant—one from each parent—to experience symptoms. The evidence for the pathogenicity of variants in this gene is well-documented in clinical databases like ClinVar, where experts review data from diagnostic laboratories and peer-reviewed studies. While rs786204503 is specifically noted as pathogenic, it is important to recognize that the severity of hereditary fructose intolerance can vary depending on the specific combination of mutations an individual carries. Clinical diagnostic testing is often used to confirm the presence of these variants in individuals who show symptoms such as nausea, vomiting, or hypoglycemia after consuming fructose-containing foods.
Population Frequency and Distribution
The rs786204503 variant is considered rare in the general population. Large-scale genomic studies, such as those found in the Genome Aggregation Database (gnomAD), indicate that this specific variant appears at very low frequencies across most ancestral groups. For example, some data suggests an allele frequency of approximately 0.11% in certain South Asian populations, while it remains extremely rare or absent in many other global cohorts. Because the variant is rare, the likelihood of an individual carrying two copies is very low, which makes the associated condition, hereditary fructose intolerance, relatively uncommon. Genetic frequency data is essential for researchers to understand the distribution of health-related variants, but it is important to remember that these statistics represent broad population trends and do not predict the health status of any single individual.
Interpreting Your Genetic Information
If you have received information about your status regarding the rs786204503 variant, it is important to approach this data with care. Genetic testing results can be complex, and the presence of a single variant does not necessarily mean you have a clinical condition, especially if the condition is recessive. You cannot use this information to self-diagnose or make changes to your diet or medical care without professional guidance. If you are concerned about your risk for hereditary fructose intolerance or have experienced symptoms related to fructose consumption, you should consult with a healthcare provider or a genetic counselor. They can help interpret your results in the context of your personal and family medical history. A clinician can also determine if further diagnostic testing is necessary to provide an accurate assessment of your health.
How common is this variant?
The rs786204503 variant is rare, with minor allele frequencies typically reported below 0.1% in most global populations, though it has been observed at a frequency of 0.11% in South Asian cohorts.
Frequently asked questions
What is hereditary fructose intolerance?
Hereditary fructose intolerance is a rare genetic disorder where the body cannot properly break down fructose. It is caused by mutations in the ALDOB gene, which leads to the accumulation of toxic substances in the liver after consuming fructose.
Is rs786204503 the only cause of fructose intolerance?
No, there are more than 50 different mutations in the ALDOB gene that have been identified as causes of hereditary fructose intolerance. This variant is just one of many that can affect the function of the aldolase B enzyme.
What should I do if I am a carrier of this variant?
Being a carrier typically means you have one copy of the variant and do not have the condition yourself. You should discuss your results with a genetic counselor or your primary care physician to understand what this means for your family planning and health.
Can I be tested for this variant?
Yes, molecular genetic testing of the ALDOB gene is available and is often used to confirm a diagnosis of hereditary fructose intolerance. You should speak with a healthcare provider to determine if testing is appropriate for your situation.
Sources & further reading
Educational information only, last refreshed 9/27/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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This variant is associated with hereditary fructosuria, a condition characterized by the inability to properly metabolize fructose.
This variant is a pathogenic mutation associated with carrier status for hereditary fructose intolerance.