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Definition (NCI)
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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.
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Definition (MSH)
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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.
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Definition (CSP)
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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.
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| Concepts |
Disease or Syndrome
(T047)
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| MSH |
D005633
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| ICD9 |
271.2 |
| ICD10 |
E74.12
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| 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
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| Japanese |
ｲﾃﾞ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
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| Russian |
FRUKTOZA, INTOLERANTNOST' K FRUKTOZE, FRUKTOZY NEPERENOSIMOST', ФРУКТОЗА, ИНТОЛЕРАНТНОСТЬ К ФРУКТОЗЕ, ФРУКТОЗЫ НЕПЕРЕНОСИМОСТЬ |
| Polish |
Nietolerancja fruktozy
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| 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 |
