X-linked adrenoleukodystrophy (ALD) is a progressive and neurodegenerative inherited disorder with clinical heterogeneity varying from presymptomatic to rapidly progressive cerebral forms. ALD is caused by accumulation of very long chain fatty acids (VLCFAs) in plasma, nervous, testicular and adrenal tissues. Affected individuals can be classified by three major phenotypic forms according to phenotypic expression and age at onset of initial symptoms: childhood cerebral form, adrenomyeloneuropathy in adults, and Addison’s disease only. Here we report three families with ALD, confirmed by ABCD1 analysis. The first family comprised of 2 brothers with same hemizygous mutation (c.1635-1G＞A). The mother was found to be heterozygous for this mutation. The elder brother, who was 13 years old, showed neurologic symptoms with adrenal insufficiency and treated with hydrocortisone and flurdocortisone. However, the younger brother, who was 7 years old, was currently asymptomatic. The patients of the second family with hemizygous mutation (c.1252C＞T) of ABCD1 were nephew and uncle; the uncle being the mother’s cousin. The nephew, currently 28 years of age, had been followed by our clinic for several years with an advanced stage of ALD, and a tracheostomy and gastrostomy tube insertion had been performed. The uncle, age 44, was diagnosed as adult-onset ALD only a few months ago because of progressing neurologic symptoms. The third family consists of a patient currently 23 years old, had been treated with hydrocortisone with diagnosis of Addison disease. Direct sequencing of ABCD1 revealed hemizygote mutation c.521A＞G. After history taking we found out that his mother’s brother had a gait disturbance which has become worse throughout the years. Hematopoietic stem cell transplantation from a normal sibling donor was conducted at 22 years old. Engraftment and complete hematologic recovery occurred within 4 weeks and acute graft versus host disease or new neurologic involvement has not been found currently. Various clinical features were observed within families, although they each shared the same mutation. Further investigation of family members of affected person and screening for ABCD1 mutation would be helpful for early detection and treatment of ALD.