eMedicine Specialties > Neurology > Pediatric Neurology

Peroxisomal Disorders: Treatment & Medication

Author: Aziza Chedrawi, MD, Consultant, Department of Neurosciences, Section of Pediatric Neurology, King Faisal Specialist Hospital and Research Center
Coauthor(s): Gary D Clark, MD, Associate Professor of Pediatrics, Neurology, Chief of Neurophysiology, Chief of Pediatric Neurology, and Neurosciencediatrics, Baylor College of Medicine, Department of Pediatrics, Texas Children's Hospital
Contributor Information and Disclosures

Updated: Mar 8, 2007

Treatment

Medical Care

  • Radical treatments of most peroxisomal disorders have been unsuccessful.
  • The current therapy for Refsum disease is dietary modification.
    • Because phytanic acid is exclusively of dietary origin (butter, cheese, beef, lamb, and some fish), its restriction can reduce its blood and tissue levels in 1-2 years.
    • Long-term follow-up has shown that dietary restriction improves peripheral-nerve and cardiac function and stabilizes the retinal abnormalities and hearing deficit.
    • In sick patients, phytanic acid levels can be rapidly lowered with plasma exchange; this may reverse some symptoms. Alternative means to decrease phytanic acid levels is w-oxidation by means of the cytochrome P-450 enzyme; however, this line of therapy remains experimental.
  • In patients with hyperoxaluria type I, combined liver-kidney transplantation has shown the greatest promise.
  • In patients with X-ALD, oral administration of a mixture of glyceryl trioleate and trierucate oils (also referred to as Lorenzo oil) normalizes levels of saturated VLCFA in plasma within 4 weeks.
    • Clinical results in patients who already had neurologic involvement have been disappointing.
    • The therapy also does not appear to alter the rate of progression of endocrine abnormalities. However, it may diminish the frequency and severity of subsequent neurologic involvement, and it has been recommended in asymptomatic boys with X-ALD after the age of 1 year.
    • Bone marrow transplantation reversed neurologic, cognitive, and neuroradiological abnormalities in 1 patient who was treated when nervous-system involvement was still mild. Results in patients with advanced disease have been disappointing.
    • Several laboratories are attempting to develop a genetic model of ADL in knock-out mice, with the aim of evaluating the efficacy of gene therapy.
  • Postnatal therapy of patients with disorders of peroxisome assembly is limited by the many abnormalities present at birth.
    • Recent data have demonstrated that patients with ZWS, NALD, and IRD have decreased blood tissue levels of docosahexanoic acid and have suggested an important role of this substance in retina and brain. On this basis, Martinez et al initiated a therapeutic trial of this substance in patients with NALD. Improved visual and neurologic function was observed in 1 patient.
    • This approach is now being tested at several centers.

Surgical Care

See Medical Care.

Diet

See Medical Care.

More on Peroxisomal Disorders

Overview: Peroxisomal Disorders
Differential Diagnoses & Workup: Peroxisomal Disorders
Treatment & Medication: Peroxisomal Disorders
Follow-up: Peroxisomal Disorders
Multimedia: Peroxisomal Disorders
References
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Further Reading

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Keywords

disorders of peroxisomal biogenesis, PBD, disorders of peroxisomal beta-oxidation, POD, metabolic disorders, metabolic diseases, peroxisome disorders, peroxisome diseases, adrenoleukodystrophy, ALD, neonatal adrenoleukodystrophy, NALD, adrenomyeloneuropathy, infantile Refsum disease, IRD, hyperpipecolic acidemia, rhizomelic chondrodysplasia punctata, RCPD, pseudo–neonatal adrenoleukodystrophy, acyl CoA oxidase deficiency, metabolic kinase deficiency, hyperoxaluria type I, alanine glyoxylate aminotransferase deficiency, bifunctional enzyme deficiency, pseudo-Zellweger syndrome, peroxisome thiolase deficiency, acatalasemia, catalase deficiency, dihydroxy acetone phosphate acyltransferase deficiency, DHAP-AT, alkyl-DHAP synthase deficiency, glutaric aciduria, adult Refsum disease, ARD, classic Refsum disease, phytanoyl CoA hydroxylase deficiency, Zellweger syndrome, ZWS, microbody, microbodies, hyperpipecolic academia, HPA, cerebrohepatorenal syndrome, peroxisomal 2-methylacyl-CoA racemasedeficiency,AMACR, Lorenzo's oil

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Contributor Information and Disclosures

Author

Aziza Chedrawi, MD, Consultant, Department of Neurosciences, Section of Pediatric Neurology, King Faisal Specialist Hospital and Research Center
Aziza Chedrawi, MD is a member of the following medical societies: American Academy of Neurology
Disclosure: Nothing to disclose.

Coauthor(s)

Gary D Clark, MD, Associate Professor of Pediatrics, Neurology, Chief of Neurophysiology, Chief of Pediatric Neurology, and Neurosciencediatrics, Baylor College of Medicine, Department of Pediatrics, Texas Children's Hospital
Gary D Clark, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Pediatrics, American Epilepsy Society, Child Neurology Society, and Society for Pediatric Research
Disclosure: Nothing to disclose.

Medical Editor

David A Griesemer, MD, Professor, Departments of Neurology and Pediatrics, Medical University of South Carolina
David A Griesemer, MD is a member of the following medical societies: American Academy of Neurology, American Epilepsy Society, and Child Neurology Society
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

Kenneth J Mack, MD, PhD, Senior Associate Consultant, Department of Child and Adolescent Neurology, Mayo Clinic
Kenneth J Mack, MD, PhD is a member of the following medical societies: American Academy of Neurology, Child Neurology Society, Phi Beta Kappa, and Society for Neuroscience
Disclosure: Nothing to disclose.

CME Editor

Selim R Benbadis, MD, Professor, Director of Comprehensive Epilepsy Program, Departments of Neurology and Neurosurgery, University of South Florida School of Medicine, Tampa General Hospital
Selim R Benbadis, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Sleep Medicine, American Clinical Neurophysiology Society, American Epilepsy Society, and American Medical Association
Disclosure: Nothing to disclose.

Chief Editor

Nicholas Y Lorenzo, MD, Chief Editor, eMedicine Neurology; Consulting Staff, Neurology Specialists and Consultants
Nicholas Y Lorenzo, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Neurology
Disclosure: Nothing to disclose.

 
 
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