Abstract
Objectives: The childhood cerebral form of X-linked adrenoleukodystrophy (X-ALD) is a severe metabolic disease without a definite effective therapy except for hematopoietic stem cell transplantation in the appropriate disease stage. Mutations in the ABCD1 gene have been identified in the majority of X-ALD patients and almost 60% of mutations are nonrecurrent. Thus, identification of the mutation affecting the new family is necessary, especially for carrier diagnosis and genetic counseling. Two Taiwanese children with XALD were analyzed for mutations in the X-ALD gene (ABCD1).
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