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Hereditary Fructose Intolerance (Hfi) (Fructosemia, Aldolase B Deficiency)

The document provides information about hereditary fructose intolerance including that it is caused by a deficiency in an enzyme that metabolizes fructose, the main symptoms which can include abdominal pain and vomiting after ingestion of fructose or related sugars, and that it is caused by mutations in the ALDOB gene which encodes an enzyme involved in fructose metabolism.

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Marin Sorić
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75 views1 page

Hereditary Fructose Intolerance (Hfi) (Fructosemia, Aldolase B Deficiency)

The document provides information about hereditary fructose intolerance including that it is caused by a deficiency in an enzyme that metabolizes fructose, the main symptoms which can include abdominal pain and vomiting after ingestion of fructose or related sugars, and that it is caused by mutations in the ALDOB gene which encodes an enzyme involved in fructose metabolism.

Uploaded by

Marin Sorić
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© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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Gene test information

HEREDITARY FRUCTOSE INTOLERANCE (HFI) (FRUCTOSEMIA, ALDOLASE B DEFICIENCY)


Background Hereditary fructose intolerance (HFI) is a hereditary condition caused by a deficiency of liver enzymes that metabolise fructose. The deficient enzyme is aldolase-B (ALDOB), which converts fructose-1phosphate to DHAP and glyceraldehyde. This means that the fructose cannot be further metabolised beyond fructose-1-phosphate. The incidence of HFI in Europe is about 1:20.000..

Symptoms of HFI Symptoms include severe abdominal pain, vomiting, and hypoglycemia following ingestion of fructose or other sugars metabolized through fructose-1-phosphate. Prolonged fructose ingestion in infants leads ultimately to hepatic and/or renal failure and death. Patients develop a strong distaste for sweet food, and can avoid a recurrence of symptoms chronic course of the disease by remaining on a fructose- and sucrose-free diet. HFI must not be confused with fructose malabsorption, which is a non-life threatening and much more common condition.

Causes of HFI HFI is caused by mutations in the ALDOB gene, which encodes the enzyme Fructose-1-phosphatealdolase-B. Depending on the type of mutation, enzymatic activity can be reduced by 85 to 100%.

Diagnosis of HFI I: Genetic test for the most common ALDOB mutations ALDOB A149P, A174D and N334K. This test detects about 87% of ALDOB mutations in Europe. II: Complete sequence analysis of the ALDOB gene to detect rare mutations. Note: The H2 breath test, which is a safe and noninvasive procedure for the diagnosis of fructose malabsorption, is not useful for the diagnosis of HFI.

References: Santer et al., The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. Hum Mutat. 2005;25:594.

Univ.-Doz. Prof. Dr. Wilfried Renner


___________________________________________________________________________________________________________________________ Laboratory for Molecular Genetics Univ.-Doz. Prof. Dr. Wilfried Renner Schaftal 50 8044 Kainbach bei Graz Tel +43 (0) 664 124 2483 Fax +43 (0) 316 231123 7030 www.labor-renner.at [email protected]

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