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

Adrenoleukodystrophy (X-ALD) is an X-Iinked recessively inherited peroxisom al disorder, phenotypically heterogeneous, characterized by progressive whi te-matter demyelination of the central nervous system and adrenocortical in sufficiency. We investigated 15 male X-ALD patients varying in age from 7 t o 39, diagnosed among 108 suspected patients referred for investigation. Pl asma levels of very long chain fatty acids (VLCFA) were measured at our lab oratory using gas chromatography (GC). Eleven cases of childhood X-ALD and four cases of adrenomyeloneuropathy (AMN) were diagnosed. Adrenal leukodyst rophy insufficiency and limb weakness were the most frequent symptoms, appe aring 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 be tween the start of symptoms and diagnosis. This is the first published seri es of Brazilian patients with X-ALD. We determined signs and symptoms relev ant for diagnosis, as early identification seems important for treatment ou tcome. In addition, diagnosis identifies carriers, who could benefit from g enetic counselling and prenatal diagnosis.