[
GALK1 deficiency
galactosemia
in vivo galactose oxidation
stable‐isotope labeled galactose
Journal
JIMD reports
ISSN: 2192-8304
Titre abrégé: JIMD Rep
Pays: United States
ID NLM: 101568557
Informations de publication
Date de publication:
May 2021
May 2021
Historique:
received:
11
10
2020
revised:
17
01
2021
accepted:
19
01
2021
entrez:
12
5
2021
pubmed:
13
5
2021
medline:
13
5
2021
Statut:
epublish
Résumé
Galactokinase deficiency is an inborn error of carbohydrate metabolism due to a block in the formation of galactose-1-phosphate from galactose. Although the association of galactokinase deficiency with formation of cataracts is well established, the extent of the clinical phenotype is still under investigation. We describe a 6-year-old female who was diagnosed with galactokinase deficiency due to cataract formation when she was 10 months of age and initially started on galactose-restricted diet at that time for 5 months. She developed gait abnormality at 4 years of age. Breath tests via measurement of
Identifiants
pubmed: 33977035
doi: 10.1002/jmd2.12205
pii: JMD212205
pmc: PMC8100398
doi:
Types de publication
Journal Article
Langues
eng
Pagination
104-109Informations de copyright
© 2021 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.
Déclaration de conflit d'intérêts
The authors have nothing to declare.
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