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Therapeutic effects of docosahexaenoic acid ethyl ester in patients with generalized peroxisomal disorders

M Martínez1, E Vázquez, M T García-Silva

  • 1Hospital Materno-Infantil Vall d'Hebron, Barcelona, Spain, and the Hospital 12 de Octubre, Madrid, Spain. mmartinez@cinet.fcr.es

The American Journal of Clinical Nutrition
|January 5, 2000
PubMed

Insights

Generalized peroxisomal disorders cause severe developmental issues due to low docosahexaenoic acid (DHA). DHA ethyl ester supplementation improved clinical symptoms, vision, and myelination in affected patients.

Area of Science:

  • Biochemistry
  • Neurology
  • Genetics

Background:

  • Generalized peroxisomal disorders are severe congenital diseases impacting the central nervous system, liver, and eyes, often leading to early mortality.
  • These disorders are characterized by impaired peroxisome formation and enzyme deficiencies, affecting plasmalogen synthesis and very-long-chain fatty acid (VLCFA) beta-oxidation.
  • Patients exhibit profound docosahexaenoic acid (DHA) deficiency in the brain, tissues, and blood, crucial for neuronal and retinal membrane function.

Purpose of the Study:

  • To investigate the therapeutic potential of normalizing docosahexaenoic acid (DHA) concentrations in patients with generalized peroxisomal disorders.
  • To assess the clinical efficacy and biochemical impact of DHA ethyl ester (DHA-EE) supplementation.

Main Methods:

  • Oral administration of purified DHA ethyl ester (DHA-EE) at daily doses of 100-500 mg to 13 patients.
  • Monitoring of DHA levels, plasmalogen concentrations, VLCFA levels, liver enzymes, and clinical parameters including vision, liver function, muscle tone, and social contact.
  • Magnetic resonance imaging (MRI) was used to evaluate brain myelination in some patients.

Main Results:

  • DHA-EE supplementation rapidly normalized blood DHA values within weeks.
  • Increased erythrocyte plasmalogen concentrations were observed in most patients.
  • Decreased plasma VLCFA levels and near-normalization of liver enzymes were noted.
  • Clinical improvements included enhanced vision, liver function, muscle tone, and social interaction.
  • MRI revealed normalization or improvement of brain myelination in several patients.

Conclusions:

  • The profound DHA deficiency is a key factor in the pathogenesis of generalized peroxisomal disorders, including Zellweger syndrome.
  • DHA ethyl ester (DHA-EE) therapy is a promising treatment, alleviating symptoms and improving outcomes in affected individuals.
  • Further research is warranted to fully elucidate the role of DHA in health and disease, supporting its therapeutic recommendation.

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