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Definition (MSH)
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A group of inherited enzyme deficiencies which feature elevations of GALACTOSE in the blood. This condition may be associated with deficiencies of GALACTOKINASE; UDPGLUCOSE-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; or UDPGLUCOSE 4-EPIMERASE. The classic form is caused by UDPglucose-Hexose-1-Phosphate Uridylyltransferase deficiency, and presents in infancy with FAILURE TO THRIVE; VOMITING; and INTRACRANIAL HYPERTENSION. Affected individuals also may develop MENTAL RETARDATION; JAUNDICE; hepatosplenomegaly; ovarian failure (PRIMARY OVARIAN INSUFFICIENCY); and cataracts. (From Menkes, Textbook of Child Neurology, 5th ed, pp61-3)
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Definition (NCI)
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An autosomal recessive inherited metabolic disorder caused by mutations in the GALE, GALK1, and GALT genes. It is characterized by deficiency of the enzymes responsible for the metabolism of galactose. Signs and symptoms include intellectual disability, hepatomegaly, hepatic failure, and renal failure.
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Definition (CSP)
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group of inherited enzyme deficiencies which feature elevations of galactose in the blood; this condition may be associated with deficiencies of galactokinase, UDP glucose-hexose-1-phosphate uridylyltransferase (classic form), or UDP glucose 4-epimerase; the classic form presents in infancy with failure to thrive, vomiting, and intracranial hypertension; affected individuals also may develop mental retardation, jaundice, hepatosplenomegaly, ovarian failure and cataracts.
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| Concepts |
Disease or Syndrome
(T047)
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| MSH |
D005693
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| ICD9 |
271.1 |
| ICD10 |
E74.21
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| SnomedCT |
38177000, 154738008, 190747003, 267498002, 190745006, 190749000 |
| LNC |
LP56739-3, MTHU021572 |
| English |
Galactosaemia NOS, Galactosemia NOS, Galactosemias, galactosemia (diagnosis), galactosemia, Galactosemias [Disease/Finding], disorder galactosemia, galactosemias, galactosaemia, galactose intolerance, Galactosemia, Galactosemia NOS (disorder), Galactosaemia, Galactose intolerance, Galactosemia (disorder), Galactosemia, NOS, Galactosaemia, NOS, Galactose intolerance, NOS, Galactosemia (disorder) [Ambiguous] |
| Italian |
Galattosemia, Intolleranza al galattosio, Disturbi del metabolismo del galattosio, Galactosemie |
| Japanese |
ガラクトース不耐症, ｶﾞﾗｸﾄｰｽｹﾂｼｮｳ, ｶﾞﾗｸﾄｰｽﾌﾀｲｼｮｳ, ｶﾞﾗｸﾄｰｽｹｯｼｮｳ, ガラクトキナーゼ欠損症, ガラクトキナーゼ-1-リン酸ウリジルトランスフェラーゼ欠損症, UDPグルコースヘキソース-1-リン酸ウリジリルトランスフェラーゼ欠損症, ガラクトース血, UDPグルコース-4-エピメラーゼ欠損症, ガラクトース血症 |
| Swedish |
Galaktosemier
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| Czech |
galaktosémie, Galaktosemie, Intolerance galaktózy, galaktosemie |
| Finnish |
Galaktosemiat
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| Russian |
GALAKTOZEMII, ГАЛАКТОЗЕМИИ |
| Polish |
Galaktozemia, Choroby z niedoboru galaktokinazy |
| Hungarian |
Galactose intolerantia, Galactosaemia |
| Norwegian |
Galaktosemi, Galaktosemier |
| Spanish |
galactosemia, SAI (trastorno), galactosemia, SAI, Deficiencia de UDPglucosa-Hexosa-1-Fosfato Uridililtransferasa, Enfermedad por Deficiencia de Galactocinasa, galactosemia (concepto no activo), galactosemia (trastorno), galactosemia, intolerancia a la galactosa, Galactosemia, Intolerancia a la galactosa, Galactosemias |
| Portuguese |
Deficiência de UDPglucose-Hexose-1-Fosfato Uridililtransferase, Galactosemia, Intolerância à galactose, Galactosemias |
| Dutch |
galactose-intolerantie, galactosemie, Galactosemie |
| French |
Galactosémie, Intolérance au galactose, Galactosémies |
| German |
Galaktosaemie, Galaktoseunvertraeglichkeit, Galaktosämie |
