Endocrinology Book

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Hereditary Fructose Intolerance

Aka: Hereditary Fructose Intolerance
  1. See Also
    1. Inborn Errors of Metabolism
    2. Inborn Error of Small Molecule Metabolism
  2. Pathophysiology
    1. Intolerance to fructose or sucrose
  3. Symptoms (follows sucrose or fructose exposure)
    1. Vomiting
    2. Hypoglycemia
    3. Seizures
    4. Coma
    5. Hepatomegaly (see Hepatomegaly in Newborns)
    6. Jaundice (Direct Hyperbilirubinemia)
  4. Labs
    1. Hepatic fructose-1-phosphatase aldolase activity
  5. Management
    1. Fructose and sucrose eliminated from diet

Hereditary fructose intolerance syndrome (C0016751)

Definition (NCI) A genetic disorder characterized by the absence of the enzyme aldolase-B from the liver. This enzyme is essential for the metabolism of fructose. Signs and symptoms from fructose ingestion are evident in infancy and include vomiting, abdominal pain and hypoglycemia. Long term complications include hepatic and renal failure.
Definition (MSH) An autosomal recessive fructose metabolism disorder due to deficient fructose-1-phosphate aldolase (EC 2.1.2.13) activity, resulting in accumulation of fructose-1-phosphate. The accumulated fructose-1-phosphate inhibits glycogenolysis and gluconeogenesis, causing severe hypoglycemia following ingestion of fructose. Prolonged fructose ingestion in infants leads ultimately to hepatic failure and death. Patients develop a strong distaste for sweet food, and avoid a chronic course of the disease by remaining on a fructose- and sucrose-free diet.
Definition (CSP) autosomal recessive fructose metabolism disorder due to deficient fructose-1-phosphate aldolase (EC 2.1.2.13) activity, resulting in accumulation of fructose-1-phosphate; accumulated fructose-1-phosphate inhibits glycogenolysis and gluconeogenesis, causing severe hypoglycemia following ingestion of fructose; prolonged fructose ingestion in infants leads ultimately to hepatic failure and death; patients develop a strong distaste for sweet food, and avoid a chronic course of the disease by remaining on a fructose- and sucrose-free diet.
Concepts Disease or Syndrome (T047)
MSH D005633
ICD9 271.2
ICD10 E74.12
SnomedCT 20052008, 237962008, 20290005
English Fructose Intolerance, Fructose Intolerances, Intolerances, Fructose, Intolerance, Fructose, hereditary fructose intolerance, Hereditary fructose intolerance syndrome, ALDB - aldolose B deficiency, Fructo-16-bisphosph aldolB def, Hereditary fructose intoleran., ALDB - aldolase B deficiency, FRUCTOSEMIA, FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE B DEFICIENCY, ALDOLASE B DEFICIENCY, FRUCTOSE INTOLERANCE, HEREDITARY, FRUCTOSE-1-PHOSPHATE ALDOLASE DEFICIENCY, fructose 1 phosphate aldolase deficiency, fructose intolerance (diagnosis), fructose intolerance, Fructose intolerance hereditary, ALDOB DEFICIENCY, Hered fructose intoleran, Hereditary Fructose Intolerance, Hereditary Fructose Intolerances, Aldolase Deficiency, Fructose-1-Phosphate, Fructose 1 Phosphate Aldolase Deficiency, Deficiencies, Fructose-1-Phosphate Aldolase, Fructose-1,6-Biphosphate Aldolase Deficiency, Aldolase Deficiencies, Fructose-1,6-Biphosphate, Fructose-1-Phosphate Aldolase Deficiency, Aldolase Deficiencies, Fructose-1-Phosphate, Fructose-1,6-Biphosphate Aldolase Deficiencies, Fructose Aldolase B Deficiency, Aldolase Deficiency, Fructose-1,6-Biphosphate, Fructose-1-Phosphate Aldolase Deficiencies, Fructose 1,6 Biphosphate Aldolase Deficiency, Fructose Intolerances, Hereditary, Deficiency, Fructose-1-Phosphate Aldolase, Deficiencies, Fructose-1,6-Biphosphate Aldolase, Deficiency, Fructose-1,6-Biphosphate Aldolase, Fructose Intolerance [Disease/Finding], fructose hereditary intolerance, fructose intolerance hereditary, Aldolase B Deficiency, Deficiency, Aldolase B, Aldolase B Deficiencies, ALDOB Deficiencies, Fructose 1,6 Bisphosphate Aldolase B Deficiency, Fructose Intolerance, Hereditary, Deficiency, ALDOB, Fructosemia, ALDOB Deficiency, Deficiencies, Aldolase B, Deficiencies, ALDOB, Fructose-1,6-Bisphosphate Aldolase B Deficiency, Fructosemias, Fructosemia (disorder), Hereditary fructose intolerance, ALDB deficiency, Aldolase B deficiency, Fructose-1-phosphate aldolase deficiency, Fructose-biphosphate aldolase B deficiency, Hereditary fructosuria, Fructosaemia, Fructose-1,6-bisphosphate aldolase B deficiency, Fructose intolerance, Fructose-1,6-bisphosphate aldolase B deficiency (disorder), fructose; intolerance, fructosemia, intolerance; fructose, Fructose intolerance, NOS, Hereditary fructosuria (disorder)
Italian Intolleranza ereditaria al fruttosio, Intolleranza al fruttosio
Dutch erfelijke fructose-intolerantie, intolerantie van fructose, fructose; intolerantie, intolerantie; fructose, fructose-intolerantie, erfelijk, Fructose-intolerantie, Intolerantie, fructose-
French Intolérance au fructose héréditaire, Intolérance au fructose, Intolérance héréditaire au fructose, Déficit héréditaire en fructose-1-phosphate aldolase, Fructosémie congénitale
German Fructoseunvertraeglichkeit, hereditaer, hereditaere Fructoseunvertraeglichkeit, Fruktoseintoleranz
Spanish Intolerancia hereditaria a la glucosa, fructosuria hereditaria (trastorno), deficiencia de fructosa-1,6-bifosfato aldolasa B (trastorno), deficiencia de fructosa-1,6-bifosfato aldolasa B, Intolerancia a la fructosa, fructosemia, fructosemia (concepto no activo), deficiencia de ALDB, deficiencia de aldolasa B, deficiencia de fructosa - 1 - fosfato aldolasa, deficiencia de fructosa bifosfato aldolasa B, fructosuria hereditaria, intolerancia hereditaria a la fructosa, Intolerancia hereditaria a la fructosa, Intolerancia a la Fructosa
Swedish Fruktosintolerans
Japanese イデンセイフルクトースフタイショウ, フルクトース不耐性, 1-Phosphofructaldolase欠損症, フルクトースフタイショウ, フルクトース不耐症, 果糖不耐性, 果糖不耐症, 遺伝性フルクトース不耐症, 遺伝性果糖不耐容性, 遺伝性果糖不耐症, 1-ホスホフルクトアルドラーゼ欠損症, フルクトース-1-リン酸アルドラーゼ欠損症
Czech fruktosa - nesnášenlivost, Hereditární intolerance fruktózy, Intolerance fruktózy
Finnish Fruktoosi-intoleranssi
Russian FRUKTOZA, INTOLERANTNOST' K FRUKTOZE, FRUKTOZY NEPERENOSIMOST', ФРУКТОЗА, ИНТОЛЕРАНТНОСТЬ К ФРУКТОЗЕ, ФРУКТОЗЫ НЕПЕРЕНОСИМОСТЬ
Polish Nietolerancja fruktozy
Hungarian Fructose intolerantia öröklött, Öröklött fructose intolerantia, Fructose intolerancia
Norwegian Fruktoseintoleranse, Arvelig fruktoseintoleranse, Fruktose-aldolase B-mangel, Hereditær fruktoseintoleranse, Fruktosemi
Portuguese Intolerância à frutose, Intolerância hereditária à frutose, Intolerância à Frutose
Sources
Derived from the NIH UMLS (Unified Medical Language System)


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