Diagnosis and Treatment of Peroxisomal Disorders

DIAGNOSIS AND TREATMENT OF PEROXISOMAL DISORDERS

The diagnosis of peroxisomal disorders usually involves biochemical tests, such as determining the concentrations of VLCFAs in the plasma. Observations of deficient secretions of aldosterone and cortisol by the adrenal cortex can imply ALD. Prenatal diagnoses are available using cultured amniocytes and chorionic villus cells

The treatment of patients with peroxisomal defects is problematic since many, especially those with Zellweger syndrome, have significant brain damage at birth so a full recovery is not possible even with postnatal therapy. Patients with some of the relatively milder conditions can live into their second decade.

Treatment largely involves supportive care and symptomatic therapy. Patients with ALD may be given Lorenzo’s oil (glyceroyl trioleate and trierucate oils) and a strict dietary regimen that returns VLCFAs to normal concentrations but does not prevent neurological degeneration. A bone marrow transplant usually has a successful outcome but only if diagnosis is early and the donor is a perfect HLA match . The treatment of Zellweger syndrome is limited. The most beneficial is the administration of the essential long chain fatty acid, docosahexaenoic acid . Sufferers of Refsum’s disease are given a dietary regimen free of phytanic acid.