Hereditary fructose intolerance

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Hereditary Fructose Intolerance

Hereditary fructose intolerance (HFI) /hɛrɪˈdɛtəri frʊkˈtoʊs ɪntɒlərəns/ is a rare genetic disorder that affects the body's ability to digest and absorb fructose. The condition is caused by a deficiency of the enzyme aldolase B, which is necessary for the breakdown of fructose in the liver.

Etymology

The term "Hereditary fructose intolerance" is derived from the nature of the condition. "Hereditary" /hɛrɪˈdɛtəri/ refers to the genetic nature of the disorder, "fructose" /frʊkˈtoʊs/ is a type of sugar, and "intolerance" /ɪntɒlərəns/ indicates the body's inability to process this sugar.

Symptoms

Symptoms of HFI often appear in infancy and can include vomiting, jaundice, and failure to thrive. In older children and adults, symptoms may include abdominal pain, bloating, and diarrhea after consuming fructose or fructose-containing foods.

Diagnosis

Diagnosis of HFI is typically made through a combination of dietary history, physical examination, and genetic testing. The genetic test can identify mutations in the ALDOB gene, which codes for the aldolase B enzyme.

Treatment

Treatment for HFI involves a strict diet that avoids all sources of fructose. This includes fruits, certain vegetables, and sweeteners like sucrose and high fructose corn syrup. With careful dietary management, individuals with HFI can lead normal, healthy lives.

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