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- Q5517832 subject Q6902466.
- Q5517832 subject Q8543555.
- Q5517832 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.".
- Q5517832 icd10 "E74.2".
- Q5517832 icd9 "271.1".
- Q5517832 meshId "D005693".
- Q5517832 omim "230400".
- Q5517832 thumbnail Beta-D-Galactopyranose.svg?width=300.
- Q5517832 wikiPageWikiLink Q127724.
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- Q5517832 wikiPageWikiLink Q3827587.
- Q5517832 wikiPageWikiLink Q409780.
- Q5517832 wikiPageWikiLink Q5517825.
- Q5517832 wikiPageWikiLink Q6531938.
- Q5517832 wikiPageWikiLink Q6902466.
- Q5517832 wikiPageWikiLink Q706.
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- Q5517832 wikiPageWikiLink Q7574983.
- Q5517832 wikiPageWikiLink Q774483.
- Q5517832 wikiPageWikiLink Q8047.
- Q5517832 wikiPageWikiLink Q8543555.
- Q5517832 wikiPageWikiLink Q906631.
- Q5517832 icd "271.1".
- Q5517832 icd "E74.2".
- Q5517832 meshid "D005693".
- Q5517832 name "Galactose-1-phosphate uridylyltransferase deficiency".
- Q5517832 omim "230400".
- Q5517832 type Disease.
- Q5517832 type Thing.
- Q5517832 type Q12136.
- Q5517832 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.".
- Q5517832 label "Galactose-1-phosphate uridylyltransferase deficiency".
- Q5517832 depiction Beta-D-Galactopyranose.svg.
- Q5517832 name "Galactose-1-phosphate uridylyltransferase deficiency".