Hereditary fructose intolerance is a life-threatening, yet preventable, disorder. If you have this hereditary condition, then you will have symptoms of nausea, vomiting and abdominal pain after consuming fructose or sucrose. People with this condition have it at birth, but there are some who are not diagnosed until they are adults.
Hereditary Fructose Intolerance
Hereditary fructose intolerance is a genetic disorder caused by a deficiency of an enzyme called fructose-1-phosphate aldolase, also referred to as aldolase B. An enzyme is a protein that the cells must have to make reactions go faster. Normally, most of the fructose in the diet is metabolized in the liver, small intestines and kidneys to fructose-1-phosphate. Fructose-1-phosphate is then broken down into two substances by the enzyme fructose-1-phosphate aldolase, as explained in the "Principles of Medical Biochemistry" by Gerhard Meisenberg, Ph.D. of the Department of Biochemistry at Ross University School of Medicine. Without enough fructose-1-phosphate aldolase, fructose-1-phosphate accumulates.
Symptoms in an Infant
The accumulation of fructose-1-phosphate in an infant causes kidney abnormalities, protein in the urine, a large liver, jaundice and vomiting. If the infant is not treated, liver failure can develop and the infant could die, explains Janet Thomas, M.D., Associate Professor in the Department of Pediatrics at the University of Colorado School of Medicine in "Current Diagnosis & Treatment: Pediatrics." Infants and children with this disorder have to avoid consuming fructose. They will usually also need to take vitamins, but they must be careful not to take any vitamins that have a sucrose base. An adult can also have this disorder.
Hereditary Fructose Intolerance in an Adult
In the May 2009 issue of the "World Journal of Gastroenterology," Mohamed Yasawy wrote about a woman who was diagnosed with hereditary fructose intolerance when she was 50 years old. Whenever she ate just a small amount of fruit or sugar, even as a child, she had pain in her abdomen, felt dizzy, nauseous and had to vomit. The diagnosis was made based on her medical history, DNA analysis, biopsy and lab tests. The biopsy, which was taken from the small intestines, showed below normal activity of the fructose-1-phosphate aldolase enzyme, while the fructose tolerance lab test had the abnormal results of low blood glucose.
Treatment
According to the HFI Lab at Boston University, there have been many reports of adults diagnosing themselves with this disorder. If you have hereditary fructose intolerance, then you were born with this disorder and have had symptoms throughout your life whenever you ate food that contained fructose or sucrose. Since a cure would mean replacing the mutated gene or the fructose-1-phosphate aldolase enzyme, which scientists are currently unable to do, the current treatment involves avoiding foods that contain fructose or sucrose.
References
- Boston University: HFI Laboratory
- "Current Diagnosis & Treatment: Pediatrics"; William Hay, Jr., M.D., Myron Levin, M.D. et al.; 2011
- "Gastrointestinal Physiology"; Kim Barrett, Ph.D.; 2006
- "Principles of Medical Biochemistry"; Gerhard Meisenberg, Ph.D., William Simmons, Ph.D.; 1998
- "World Journal of Gastroenterology"; Adult Hereditary Fructose Intol.; Mohamed Yasawy et al.; 2009
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