How is Hereditary Fructose Intolerance diagnosed?

See how Hereditary Fructose Intolerance is diagnosed. Which specialists are essential to meet, what tests are needed and other useful information for the diagnosis of Hereditary Fructose Intolerance

Hereditary Fructose Intolerance diagnosis

Hereditary Fructose Intolerance (HFI) is a rare genetic disorder that affects the body's ability to break down fructose, a type of sugar found in many fruits and sweeteners. It is caused by a deficiency of the enzyme aldolase B, which is responsible for metabolizing fructose in the liver.

Diagnosing HFI

Diagnosing HFI typically involves a combination of clinical evaluation, medical history assessment, and laboratory tests. Here are the key steps involved in diagnosing this condition:

Medical history: The doctor will review the patient's medical history, paying close attention to symptoms such as abdominal pain, bloating, vomiting, and hypoglycemia (low blood sugar levels) that occur after consuming fructose or fructose-containing foods.

Physical examination: A thorough physical examination may be conducted to check for signs of liver or gastrointestinal abnormalities.

Dietary assessment: The doctor may ask the patient to keep a detailed food diary to identify any patterns between fructose consumption and symptom onset.

Elimination diet: To confirm the diagnosis, an elimination diet may be recommended. This involves removing all sources of fructose from the diet for a period of time to observe if symptoms improve.

Fructose challenge test: In some cases, a controlled fructose challenge test may be performed under medical supervision. This involves administering a specific amount of fructose and monitoring the patient for symptoms and changes in blood sugar levels.

Genetic testing: Genetic testing can definitively confirm the diagnosis of HFI by identifying mutations in the ALDOB gene, which is responsible for producing the aldolase B enzyme.

Conclusion

Diagnosing Hereditary Fructose Intolerance involves a comprehensive evaluation of medical history, physical examination, dietary assessment, and potentially genetic testing. It is important to consult with a healthcare professional for an accurate diagnosis and appropriate management of this rare genetic disorder.

Diseasemaps

The diagnostics are primarily for the symptoms, in a type of mutation, the blood test aldolase is able to give the result, and in the other mutations you have to do the genetic testing, has a genetic testing cheaper than the diagnosis 3 mutations and the other more complete diagnoses, all mutations, even the most rare. But there are also some mutations that neither gene is able to detect.

Posted Mar 4, 2017 by Lidia 1010