GLYCEROLTRIOLEATE GLYCEROLTRIERUCATE THERAPY IN 16 PATIENTS WITH X-CHROMOSOMAL ADRENOLEUKODYSTROPHY ADRENOMYELONEUROPATHY - EFFECT ON CLINICAL, BIOCHEMICAL AND NEUROPHYSIOLOGICAL PARAMETERS

We have investigated the effect of glyceroltrioleate/glyceroltrierucat e (GTO/GTE) therapy on X-chromosomal adrenoleukodystrophy in 16 patien ts with adrenoleukodystrophy (n = 6), adrenomyeloneuropathy (n = 3), A ddison disease without neurological involvement (n = 2), and neurologi cally and endocrinologically asymptomatic patients (n = 5). Therapy wa s carried out for 19.4 +/- 10 months. All patients showed a normalizat ion of C 26:0 plasma fatty acid concentrations. None of the seven neur ologically asymptomatic patients developed neurological symptoms. Soma tosensory evoked potentials of the tibialis nerve was the most sensiti ve electrophysiological parameter, showing a slight improvement in neu rologically asymptomatic patients during therapy. In none of the patie nts with normal cranial MRI at start of therapy (n = 6) has MRI deteri oration been observed whilst on therapy. Follow up of the neurological ly asymptomatic children supports the hypothesis that GTO/GTE therapy might prevent the development of neurological symptoms. Six of the nin e neurologically symptomatic patients deteriorated to varying degrees whilst on therapy. MRT alterations have worsened in all patients with clinical deterioration. Conclusion GTO/GTE treatment should be initiat ed in all neurological asymptomatic boys before first neurological sym ptoms develop. To discover these patients very long-chain fatty acid d etermination should be performed in all family members at risk when ad renoleukodystrophy or adrenomyeloneuropathy is diagnosed.