X-linked adrenoleukodystrophy: clinical and laboratory findings in 15 Brazilian patients

adrenoleukodystrophy (x-ald) is an x-linked recessively inherited peroxisomal disorder, phenotypically heterogeneous, characterized by progressive white-matter demyelination of the central nervous system and adrenocortical insufficiency. we investigated 15 male x-ald patients varying in age from 7 to 39, diagnosed among 108 suspected patients referred for investigation. plasma levels of very long chain fatty acids (vlcfa) were measured at our laboratory using gas chromatography (gc). eleven cases of childhood x-ald and four cases of adrenomyeloneuropathy (amn) were diagnosed. adrenal leukodystrophy insufficiency and limb weakness were the most frequent symptoms, appearing in 12, 8 and 6 of the patients, respectively. physician awareness of x-ald seems inadequate to judge by age at diagnosis and lengthy interval between the start of symptoms and diagnosis. this is the first published series of brazilian patients with x-ald. we determined signs and symptoms relevant for diagnosis, as early identification seems important for treatment outcome. in addition, diagnosis identifies carriers, who could benefit from genetic counselling and prenatal diagnosis.