Hereditary Fructose Intolerance runs in the families and hence, children born in families with a medical history of the condition are at risk. Those having consanguineous partners/spouses have the greatest risk.
It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.
Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.
Autosomal Recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).
Signs and symptoms of Hereditary Fructose Intolerance are presented once the infant is started on artificially-sweetened formulaic food (or other mashed food, fruits, etc.). Repeated feeding of food containing fructose causes liver and kidney damage. The following are observed:
It is very important that Hereditary Fructose Intolerance be diagnosed as early as possible. This is to prevent serious harm from occurring, during the child’s most critical formative phase. Diagnostic tests for HFI that are performed on the newborn child, or on any affected individual include:
Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.
Complications of Hereditary Fructose Intolerance could lead to fatalities. These include:
Management of Hereditary Fructose Intolerance is undertaken on a case-by-case, symptom basis. The measures considered are dependent upon the age of the individual, the disease stage, and acuity of the symptoms. These include:
Hereditary Fructose Intolerance is many a time confused with a condition known as fructose malabsorption, which is a reduced absorption of fructose in the intestines leading to physiological problems. It is also known as dietary fructose intolerance, and is unrelated to HFI.
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