%0 Journal Article
%T X-linked adrenoleukodystrophy: clinical and laboratory findings in 15 Brazilian patients
%A Vargas
%A Carmen R.
%A Coelho
%A Daniella de M.
%A Barschak
%A Aleth¨¦a G.
%A Souza
%A Carolina F.M. de
%A Puga
%A Ana C.S.
%A Schwartz
%A Ida V.D.
%A Jardim
%A Laura
%A Giugliani
%A Roberto
%J Genetics and Molecular Biology
%D 2000
%I Sociedade Brasileira de Gen¨¦tica
%R 10.1590/S1415-47572000000200002
%X 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.
%U http://www.scielo.br/scielo.php?script=sci_abstract&pid=S1415-47572000000200002&lng=en&nrm=iso&tlng=en