Galactokinase deficiency: a treatable cause of bilateral cataracts.
congenital disorders
diet
ophthalmology
Journal
BMJ case reports
ISSN: 1757-790X
Titre abrégé: BMJ Case Rep
Pays: England
ID NLM: 101526291
Informations de publication
Date de publication:
04 Jun 2021
04 Jun 2021
Historique:
entrez:
5
6
2021
pubmed:
6
6
2021
medline:
9
6
2021
Statut:
epublish
Résumé
Congenital cataract can be caused by several systemic diseases and differential diagnosis should be done between infections, genetic or metabolic diseases. We present a case of a 12-month-old girl with bilateral nuclear cataracts that was referred for investigation. Since she did not present a family history of congenital cataracts or metabolic diseases, and her physical examination was normal, a systemic evaluation was performed. Biochemical studies disclosed abnormal galactose metabolism signs. The diagnosis of galactokinase (GALK1) deficiency was considered and the study of the GALK1 gene allowed identifying a pathogenic genetic variant and a predictably pathogenic missense mutation, previously not described. Dietary measures were imposed with a good evolution.
Identifiants
pubmed: 34088690
pii: 14/6/e242227
doi: 10.1136/bcr-2021-242227
pmc: PMC8183283
pii:
doi:
Substances chimiques
Galactokinase
EC 2.7.1.6
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© BMJ Publishing Group Limited 2021. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.
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