0-9 - A - B - C - D - E - F - G - H - I - J - K - L - M - N - O - P - Q - R - S - T - U - V - W - X - Y - Z

Fructose Intolerance, Hereditary

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

View Full Report

Synonyms of Fructose Intolerance, Hereditary

Fructose-1-Phosphate Aldolase Deficiency
Fructosemia

Disorder Subdivisions

No subdivisions found.

General Discussion

There are three inherited disorders of fructose metabolism that are recognized and characterized. Essential fructosuria, is a mild disorder not requiring treatment, while Hereditary fructose intolerance (HFI) and Hereditary fructose-1,6-biphosphatase deficiency (HFBP) are treatable and controllable but must be taken seriously.

Hereditary Fructose Intolerance (HFI) is an inherited inability to digest fructose (fruit sugar) or its precursors (sugar, sorbitol and brown sugar). This is due to a deficiency of activity of the enzyme fructose-1-phosphate aldolase, resulting in an accumulation of fructose-1-phosphate in the liver, kidney, and small intestine. Fructose is a naturally occurring sugar that is used as a sweetener in many foods, including many baby foods. This disorder can be life threatening in infants and ranges from mild to severe in older children and adults.

People who have HFI usually develop a strong dislike for sweets and fruit. After eating foods containing fructose, they may experience such symptoms as severe abdominal pain, vomiting, and low blood sugar (hypoglycemia).

Early diagnosis is important because, while most people who have HFI can lead normal lives if they adopt a fructose-free diet. If left untreated however, the condition can lead to permanent physical harm, including especially, serious liver and kidney damage.

Organizations related to Fructose Intolerance, Hereditary

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

The National Organization for Rare Disorders (NORD) web site, its databases, and the contents thereof are copyrighted by NORD. No part of the NORD web site, databases, or the contents may be copied in any way, including but not limited to the following: electronically downloading, storing in a retrieval system, or redistributing for any commercial purposes without the express written permission of NORD. Permission is hereby granted to print one hard copy of the information on an individual disease for your personal use, provided that such content is in no way modified, and the credit for the source (NORD) and NORD’s copyright notice are included on the printed copy. Any other electronic reproduction or other printed versions is strictly prohibited.