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What is the history of Fructose Intolerance?

When was Fructose Intolerance discovered? What is the story of this discovery? Was it coincidence or not?

History of Fructose Intolerance

The History of Fructose Intolerance



Fructose intolerance, also known as hereditary fructose intolerance (HFI), is a rare genetic disorder that affects the body's ability to metabolize fructose. It is caused by a deficiency of the enzyme aldolase B, which is responsible for breaking down fructose in the liver. Without this enzyme, fructose builds up in the liver, leading to a range of symptoms and potentially serious complications.



Discovery and Early Understanding



The history of fructose intolerance dates back to the early 1950s when the condition was first described by Dr. Victor McKusick, an American physician and geneticist. He observed a group of patients who experienced severe symptoms after consuming fructose-containing foods. These symptoms included vomiting, abdominal pain, and liver dysfunction.



Dr. McKusick's research led to the identification of a genetic defect that caused the deficiency of aldolase B enzyme, which was later confirmed by other scientists. This discovery marked the beginning of our understanding of fructose intolerance as a distinct genetic disorder.



Genetic Basis and Inheritance



Fructose intolerance is an autosomal recessive disorder, meaning that an individual must inherit two copies of the defective gene (one from each parent) to develop the condition. The gene responsible for HFI is located on chromosome 9 and is known as ALDOB.



Individuals who carry only one copy of the defective gene are considered carriers and do not typically experience symptoms. However, if both parents are carriers, there is a 25% chance with each pregnancy that their child will inherit two copies of the defective gene and develop fructose intolerance.



Symptoms and Diagnosis



The symptoms of fructose intolerance can vary in severity and may manifest shortly after consuming fructose or fructose-containing foods. Common symptoms include abdominal pain, bloating, nausea, vomiting, diarrhea, and hypoglycemia (low blood sugar).



Diagnosing fructose intolerance can be challenging as the symptoms can overlap with other gastrointestinal disorders. However, a definitive diagnosis can be made through genetic testing to identify the presence of the ALDOB gene mutation or by performing a liver biopsy to measure the activity of the aldolase B enzyme.



Dietary Management and Treatment



Currently, there is no cure for fructose intolerance, and the primary treatment involves strict dietary management. Individuals with fructose intolerance must avoid consuming foods and beverages that contain fructose, sucrose, and sorbitol.



Avoidance of fructose-rich foods such as fruits, honey, and high-fructose corn syrup is crucial. Additionally, individuals with fructose intolerance may need to limit their intake of certain vegetables, grains, and processed foods that contain hidden sources of fructose or fructose derivatives.



Advancements in Understanding and Research



Over the years, advancements in genetic research and molecular biology have deepened our understanding of fructose intolerance. Scientists have identified various mutations in the ALDOB gene that can lead to different degrees of enzyme deficiency and clinical manifestations.



Research efforts have also focused on developing potential therapies for fructose intolerance. Gene therapy, enzyme replacement therapy, and pharmacological approaches are being explored as potential treatment options, although they are still in the experimental stages.



Conclusion



The history of fructose intolerance spans several decades, beginning with its initial description by Dr. Victor McKusick in the 1950s. Since then, significant progress has been made in understanding the genetic basis, inheritance patterns, and clinical manifestations of this rare disorder.



While there is currently no cure for fructose intolerance, ongoing research offers hope for future treatment options. In the meantime, individuals with fructose intolerance can effectively manage their condition through strict dietary modifications, avoiding fructose-containing foods and beverages.


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started in 2004, treatment at iffi in 2013 led to negative breath test
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Got sick in 2015, diagnosted in 2016. Also a lack of vitamine b-12.

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