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Galactokinase deficiency: a treatable cause of bilateral cataracts

Catarina Cordeiro1, Paula Garcia2, Dalila Coelho2

  • 1Departamento Pediátrico - Centro Hospitalar e Universitario de Coimbra, Coimbra, Portugal ana_catarina_cordeiro@hotmail.com.

BMJ Case Reports
|June 5, 2021
PubMed

Insights

Galactokinase (GALK1) deficiency caused congenital cataracts in a 12-month-old girl. Genetic analysis identified a novel mutation, and dietary changes improved her condition.

Area of Science:

  • Ophthalmology
  • Medical Genetics
  • Biochemistry

Background:

  • Congenital cataracts necessitate differential diagnosis, considering infections, genetic, and metabolic disorders.
  • Early identification of underlying systemic diseases is crucial for managing congenital cataracts.

Observation:

  • A 12-month-old girl presented with bilateral nuclear cataracts without a family history or significant physical findings.
  • Systemic evaluation revealed biochemical evidence of abnormal galactose metabolism.

Findings:

  • The patient was diagnosed with galactokinase (GALK1) deficiency.
  • Genetic analysis identified a novel pathogenic missense mutation in the GALK1 gene.

Implications:

  • This case highlights GALK1 deficiency as a cause of congenital cataracts.
  • Prompt diagnosis and dietary management can lead to positive clinical outcomes in GALK1 deficiency.
  • Further research into GALK1 gene mutations and their clinical manifestations is warranted.

Keywords:
congenital disordersdietophthalmology

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