This charity has been set up to offer research based and lived experience, advice and support.
Aims:
To support any individual of any age with HFI, particularly parents of babies and children with or awaiting an HFI diagnosis.
To increase awareness of the condition amongst professionals who may be unaware of the existence of HFI, to allow for safe treatment of other conditions.
To campaign to get HFI screened for routinely at birth.
To offer training and advice in medical, nursing and educational settings.
The disorder:
Hereditary fructose intolerance is an autosomal recessive disorder caused by deficiency of the enzyme aldolase B. Aldolase B is found primarily in the liver, with some also in the kidneys and small intestine.
HFI usually manifests in babies at the point of weaning onto solid foods. Symptoms include abdominal pain and vomiting (often misdiagnosed as colic in infancy), symptomatic hypoglycaemia – low blood sugar – (which may induce seizures), hypophosphataemia (low phosphate levels), acidosis, and other metabolic disturbances after consumption of foods and drinks containing fructose, sucrose or sorbitol. A child may also be labelled as “Failure to thrive”. However, HFI may come to light at any age.
It is sometimes a dentist who will first recognise HFI, when their adult patient presents with not a single filling!
If both parents carry the recessive gene, there is a 1:4 chance of having a child with HFI.
The most dangerous age to have undiagnosed HFI is for infants, when fatalities can occur, but for adults, if fructose, or one of its congeners (a sugar or substitute that metabolises into fructose) is given in a medical/hospital setting to someone with undiagnosed HFI, it can cause death from acute hepatorenal (liver and kidney) injury.
Diagnosis:
With increasing knowledge of DNA, molecular analysis of the aldolase B gene by DNA test is usually decisive, and avoids the hazards posed by previous invasive testing.
It is important to get a firm diagnosis, as there are other conditions with similar symptoms.
HFI is now one of the inherited conditions that will be screened for in the UK pilot newborn genomic screening.
Early diagnosis and dietary modification are critical for well-being and normal development.
There is no cure as such for HFI, but with a strict diet avoiding fructose, sucrose and sorbitol, someone with the condition can live a normal lifespan. It is recommended that supplements of Vitamin C and Folic acid are given.
People with HFI usually have a strong aversion to anything that tastes sweet. This can be quite literally their life saver, stopping them from eating the foods that their bodies cannot metabolise. Many people reach adulthood without knowing that they have HFI, although they are aware that their diets are not the same as their peers. Left undiagnosed, they could be causing longer term damage to liver and kidneys with an unsafe diet.
What is an HFI-safe diet like?
A safe diet for someone with HFI is counter intuitive to all the general “Healthy Diet” information that is recommended for most people.
Any foods containing fructose, sucrose, sorbitol – all are toxic to someone with HFI. Fruits, and most vegetables are literally poisonous for us.
A safe HFI diet consist mainly of meat, fish, eggs, unsweetened dairy products, white rice, some white breads and pasta (needs to be sugar free), some lentils and pulses and small amounts of olives, mushrooms and dark green vegetables (e.g. spinach, kale – stalks removed).
Most people with HFI make most of their meals from scratch at home, as processed foods often contain added sugars which can make them ill. Reading ingredients lists on all foodstuffs on the supermarket shelves becomes second nature.
As long as fructose, sucrose and sorbitol are avoided, someone with HFI will be free of major symptoms, although more research is needed into the effects of regular small amounts of fructose.
Charity number: 1184023
Medical Advisor: Professor of Medicine (Emeritus); Honorary Consultant Physician at University of Cambridge: Professor Timothy Cox
