Aetiology
Other specified disorders of fructose metabolism are a group of rare inherited metabolic disorders caused by a deficiency in an enzyme involved in the metabolism of fructose. These disorders can be caused by mutations in the gene encoding the enzyme, or through deficiency of cofactors required for the enzyme to function properly.
Diagnosis
Other specified disorders of fructose metabolism are typically diagnosed through biochemical testing, which may include the measurement of enzyme activity, levels of metabolites, and genetic tests. Other tests, such as liver function tests and imaging studies, may also be used to help diagnose these disorders.
Differential diagnosis
Other specified disorders of fructose metabolism should be distinguished from other disorders of carbohydrate metabolism, such as galactosemia, hereditary fructose intolerance, and Wilson’s disease.
Treatment
Treatment of other specified disorders of fructose metabolism is based on the underlying cause, and may include dietary modifications, supplementation of essential vitamins and minerals, and enzymes or other medications to correct metabolic deficiencies.
Prognosis
The prognosis for other specified disorders of fructose metabolism is generally good, if the disorder is diagnosed early and the appropriate treatment is started.