ALDH18A1 gene

Overview

Gene (OMIM No.)
Function of gene/protein
  • Aldehyde dehydrogenase 18 family, member A1
  • Involved in the synthesis of proline and ornithine
Clinical phenotype
(OMIM phenotype no.)
  • Spastic paraplegia 9 (SPG9) (#601162)
Inheritance
  • Autosomal dominant and autosomal recessive
Ocular features
  • Optic atrophy
Visual function
  • Progressive vision loss
Systemic features
  • Progressive spasticity of lower limbs
  • Intellectual disability
  • Epilepsy
Key investigations
  • Genetic testing: identification of ALDH18A1 mutations
  • MRI: brain imaging to assess structural changes
Management
  • Supportive care including physical therapy and management of spasticity
  • Regular ophthalmologic follow-up
Therapies under research
  • None currently specified

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References

  1. Handley MT, Mégarbané A, Meynert AM, Brown S, Freyer E, Taylor MS, Jackson IJ, Aligianis IA. Loss of ALDH 18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome. Molecular Genetics & Genomic Medicine. 2014 Jul;2(4):319-25.

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Updated on July 8, 2024
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