We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Galactosemia Diagnosis by Whole Exome Sequencing Later in Life.
- Authors
Lucas‐Del‐Pozo, Sara; Moreno‐Martinez, David; Camprodon‐Gomez, Maria; Moreno‐Martinez, Daniel; Hernández‐Vara, Jorge
- Abstract
These variants account for 69% to 88% of galactosemia alleles in Caucasians.5 Because galactose is a monosaccharide, galactosemia can secondarily impair glycosylation, with an elevation of sialotransferrin, just like CDG. GLO:JZVX/02aug21:mdc313295-fig-0001.jpg PHOTO (COLOR): 1 Brain MRI diffuse white matter signal alteration and faint T2 hypersignal affecting the subcortical white matter and semi-oval centers of both cerebral hemispheres. Keywords: galactosemia; ataxia EN galactosemia ataxia S37 S39 3 09/06/21 20210802 NES 210802 Galactosemia (OMIM:230400) is an inborn neuro-metabolic disorder caused by an alteration in 1 of the 3 enzymes involved in the metabolism of galactose: galactokinase, galactose-1-phosphate-uridylintransferase (GALT), and UDP-galactose 4-epimerase.1 Most of the classic galactosemia patients present during the neonatal period with jaundice, hepatosplenomegaly, hepatocellular failure, poor growth, renal dysfunction, sepsis, and cataracts.
- Subjects
GALACTOSEMIA; MOVEMENT disorders; JAUNDICE; SYMPTOMS; MAGNETIC resonance imaging; FRAGILE X syndrome; CONGENITAL disorders
- Publication
Movement Disorders Clinical Practice, 2021, Vol 8, pS37
- ISSN
2330-1619
- Publication type
Article
- DOI
10.1002/mdc3.13295