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- Galactose-1-phosphate_uridylyltransferase_deficiency abstract "Galactose-1-phosphate uridylyltransferase deficiency, also called galactosemia type 1, classic galactosemia or GALT deficiency, is the most common type of galactosemia, an inborn error of galactose metabolism, caused by a deficiency of the enzyme galactose-1-phosphate uridylyltransferase. It is an autosomal recessive metabolic disorder that can cause liver disease and death if untreated. Treatment of galactosemia is most successful if initiated early, and includes dietary restriction of lactose intake. Because early intervention is key, galactosemia is included in newborn screening programs in many areas. On initial screening, which often involves measuring the concentration of galactose in blood, classic galactosemia may be indistinguishable from other inborn errors of galactose metabolism, including galactokinase deficiency and galactose epimerase deficiency. Further analysis of metabolites and enzyme activities are needed to identify the specific metabolic error.".
- Galactose-1-phosphate_uridylyltransferase_deficiency diseasesdb "5056".
- Galactose-1-phosphate_uridylyltransferase_deficiency emedicineSubject "ped".
- Galactose-1-phosphate_uridylyltransferase_deficiency emedicineTopic "818".
- Galactose-1-phosphate_uridylyltransferase_deficiency icd10 "E74.2".
- Galactose-1-phosphate_uridylyltransferase_deficiency icd9 "271.1".
- Galactose-1-phosphate_uridylyltransferase_deficiency meshId "D005693".
- Galactose-1-phosphate_uridylyltransferase_deficiency omim "230400".
- Galactose-1-phosphate_uridylyltransferase_deficiency thumbnail Beta-D-Galactopyranose.svg?width=300.
- Galactose-1-phosphate_uridylyltransferase_deficiency wikiPageID "11039449".
- Galactose-1-phosphate_uridylyltransferase_deficiency wikiPageRevisionID "595131317".
- Galactose-1-phosphate_uridylyltransferase_deficiency caption Galactose.
- Galactose-1-phosphate_uridylyltransferase_deficiency diseasesdb "5056".
- Galactose-1-phosphate_uridylyltransferase_deficiency emedicinesubj "ped".
- Galactose-1-phosphate_uridylyltransferase_deficiency emedicinetopic "818".
- Galactose-1-phosphate_uridylyltransferase_deficiency genereviewsname "Galactosemia".
- Galactose-1-phosphate_uridylyltransferase_deficiency genereviewsnbk "NBK1518".
- Galactose-1-phosphate_uridylyltransferase_deficiency hasPhotoCollection Galactose-1-phosphate_uridylyltransferase_deficiency.
- Galactose-1-phosphate_uridylyltransferase_deficiency icd "271.1".
- Galactose-1-phosphate_uridylyltransferase_deficiency icd "E74.2".
- Galactose-1-phosphate_uridylyltransferase_deficiency meshid "D005693".
- Galactose-1-phosphate_uridylyltransferase_deficiency name "Galactose-1-phosphate uridylyltransferase deficiency".
- Galactose-1-phosphate_uridylyltransferase_deficiency omim "230400".
- Galactose-1-phosphate_uridylyltransferase_deficiency subject Category:Autosomal_recessive_disorders.
- Galactose-1-phosphate_uridylyltransferase_deficiency subject Category:Inborn_errors_of_carbohydrate_metabolism.
- Galactose-1-phosphate_uridylyltransferase_deficiency type Disease.
- Galactose-1-phosphate_uridylyltransferase_deficiency type Situation.
- Galactose-1-phosphate_uridylyltransferase_deficiency comment "Galactose-1-phosphate uridylyltransferase deficiency, also called galactosemia type 1, classic galactosemia or GALT deficiency, is the most common type of galactosemia, an inborn error of galactose metabolism, caused by a deficiency of the enzyme galactose-1-phosphate uridylyltransferase. It is an autosomal recessive metabolic disorder that can cause liver disease and death if untreated.".
- Galactose-1-phosphate_uridylyltransferase_deficiency label "Galactose-1-phosphate uridylyltransferase deficiency".
- Galactose-1-phosphate_uridylyltransferase_deficiency sameAs m.02qyy35.
- Galactose-1-phosphate_uridylyltransferase_deficiency sameAs Q5517832.
- Galactose-1-phosphate_uridylyltransferase_deficiency sameAs Q5517832.
- Galactose-1-phosphate_uridylyltransferase_deficiency wasDerivedFrom Galactose-1-phosphate_uridylyltransferase_deficiency?oldid=595131317.
- Galactose-1-phosphate_uridylyltransferase_deficiency depiction Beta-D-Galactopyranose.svg.
- Galactose-1-phosphate_uridylyltransferase_deficiency isPrimaryTopicOf Galactose-1-phosphate_uridylyltransferase_deficiency.
- Galactose-1-phosphate_uridylyltransferase_deficiency name "Galactose-1-phosphate uridylyltransferase deficiency".
