Hereditary fructose intolerance
Name = Fructose intolerance
ICD10 = ICD10|E|74|1|e|70
ICD9 = ICD9|271.2
OMIM = 229600
MedlinePlus = 000359
eMedicineSubj = ped
eMedicineTopic = 988
DiseasesDB = 5003
MeshID = D005633
Hereditary fructose intolerance (HFI) or fructose poisoning is a
hereditary conditioncaused by a deficiency of liver enzymes that metabolise fructose. It is also known as hereditary fructosemia, or fructose in the blood (-emia means in the blood)
The deficient enzyme is
aldolase-B, which converts fructose-1-phosphateto DHAPand glyceraldehyde. This means that the fructose cannot be further metabolised beyond fructose-1-phosphate. This traps phosphates; which are needed to phosphorylate glycogen phosphorylasewhich carries on to release units of glucose-1-phosphatefrom glycogen. (Glucose-1-phosphate gets converted to glucose-6-phosphateand then dephosphorylated to form glucose).
Aldolase Aplays an important role in gluconeogenesis, producing fructose-1,6-bisphosphatefrom glyceraldehyde-3-phosphateand DHAP. But, glucose may still be released through the breakdown of glycogen. Although, it cannot be synthesized from gluconeogenesis, resulting in severe hypoglycaemia.
If fructose is ingested, other symptoms such as vomiting,
hypoglycemia, jaundice, hemorrhage, hepatomegaly, hyperuricemiaand eventually kidney failurewill follow.
Treatment is with a fructose free diet, which if adhered to, is concordant with a good prognosis. [GPnotebook|-389021656]
Fructose and sucrose eliminated from diet.
Hereditary fructose intolerance should not be confused with
fructose malabsorption. The latter is the same as dietary fructose intolerance(DFI), a deficiency of fructose transporter enzyme in the enterocytes, which leads to abdominal bloating, diarrheaand/or constipation.
Inborn error of metabolism
* [http://www.bu.edu/aldolase/HFI/hfiinfo/ Boston University HFI Lab]
* [http://www.food-info.net/uk/intol/hfi.htm Food-Info.net Fructose Intolerance (with list of acceptable and non-acceptable carbohydrates)]
* [http://ndt.oxfordjournals.org/cgi/content/full/18/6/1220 Case Study]
* [http://hfiinfo.proboards42.com/index.cgi HFI-Info Discussion Board]
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