Galactokinase deficiency
id:
galactokinase-deficiency-166-4795989
title:
Galactokinase deficiency
text:
Galactokinase deficiency is an autosomal recessive metabolic disorder marked by an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase. The disorder is caused by mutations in the GALK1 gene, located on chromosome 17q24. Galactokinase catalyzes the first step of galactose phosphorylation in the Leloir pathway of intermediate metabolism. Galactokinase deficiency is one of the three inborn errors of metabolism that le
brand slug:
wiki
category slug:
encyclopedia
description:
Medical condition
original url:
https://en.wikipedia.org/wiki/Galactokinase_deficiency
date created:
2007-03-22T23:19:29Z
date modified:
2024-08-29T19:19:25Z
main entity:
{"identifier":"Q5517825","url":"https://www.wikidata.org/entity/Q5517825"}
image:
{"content_url":"https://upload.wikimedia.org/wikipedia/commons/d/da/Dulcitol.svg","width":1132,"height":509}
fields total:
13
integrity:
16