Summary
Hereditary Fructose Intolerance (HFI) is a genetic disorder caused by a deficiency in the enzyme aldolase B, which is crucial for metabolizing fructose. Patients with HFI cannot properly breakdown fructose, leading to the accumulation of fructose-1-phosphate in the liver, kidneys, and small intestine. This accumulation can cause a variety of symptoms, including abdominal pain, vomiting, hypoglycemia, jaundice, and, if untreated, severe liver and kidney damage. Diagnosis is often through genetic testing to detect mutations in the ALDOB gene. Dietary management is the primary treatment for HFI and involves the strict avoidance of fructose, sucrose, and sorbitol. This dietary restriction helps to prevent acute symptoms and long-term complications. Patients adhering to a fructose-free diet generally have a favorable prognosis, although issues like growth retardation and liver abnormalities can persist, necessitating ongoing monitoring. Vitamin deficiencies, especially vitamin C, are common due to the restricted diet; hence, appropriate supplementation is often recommended. Although fructose intake must be carefully controlled, the ingestion of small, manageable amounts of fructose from certain foods may support metabolic function and should be tailored to individual tolerance. Early diagnosis and dietary compliance are essential for managing the condition and ensuring a good quality of life.
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Published By:
S Gaughan, L Ayres, PR Baker - 2021 - europepmc.org
HFI in pregnancy shows persistent hepatic issues in mothers and lower birth weight in affected babies. Monitoring and tailored care are crucial for managing HFI in pregnant women.
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F Zingone, L Bertin, D Maniero, M Palo, G Lorenzon… - Nutrients, 2023 - mdpi.com
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MHF El-Shabrawi, NM Kamal - Pediatric Drugs, 2011 - Springer
Adequate nutrition during infancy and childhood is crucial for growth and health. The updated edition provides concise guidance for healthcare professionals globally.
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EM Maier, K Dokoupil - Pediatric Nutrition in Practice, 2022 - karger.com
Malnutrition and sarcopenia in chronic liver disease increase risks of complications and mortality. Indian guidelines emphasize the need for specific nutritional assessment and management due to ethnic differences.
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P Puri, RK Dhiman, S Taneja, P Tandon, M Merli… - Journal of clinical and …, 2021 - Elsevier
A method using glucose isomerase to treat fructose intolerance is disclosed, excluding use with 5-D-fructose-dehydrogenase. The glucose isomerase can be administered orally, optionally with a second enzyme like invertase.
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DH Wyrobnik, IH Wyrobnik - US Patent 8,460,911, 2013 - Google Patents
HFI is a rare disease managed by a fructose-free diet; early diagnosis is crucial. Chronic issues may arise despite treatment.
Published By:
F Úbeda, S Santander, MJ Luesma - Diseases, 2024 - mdpi.com
HFI causes liver, kidney, and intestine issues due to fructose metabolism issues. It manifests as hypoglycemia, abdominal pain, and kidney dysfunction, with symptoms worsened by fructose intake.
Published By:
TM Cox - Genetic Diseases of the Kidney, 2009 - Elsevier
HFI patients may show mild liver injury despite a FSS-free diet. Genotype influences ALT levels.
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F Di Dato, S Spadarella, MG Puoti, MG Caprio… - Nutrients, 2019 - mdpi.com