To investigate clinical features and diagnosis methods of adrenoleukodystrophy (ALD). Methods: Clinical manifestations, imaging findings, medical treatment, and follow-up study of 3 ALD patients were retrospectively reviewed. Results: Case 1 was an adolescent male with childhood onset of disease. The clinical manifestations were epilepsy, visual impairment, hearing impairment, cognitive impairment, motor dysfunction, and adrenocortical dysfunction. Brain MRI of the patient showed long T1 and T2 and high T2Flair signal intensities in the bilateral parietal lobe and occipital lobe white matter. The clinical diagnosis of the patient was childhood cerebral form ALD. After antiepileptic therapy and glucocorticoid replacement therapy, seizure did not recur and there was no significant improvement in cognitive dysfunction at 3-months of follow-up. Cases 2 and 3 were adult males. The clinical manifestations were spastic paraplegia and sensory ataxia. Brain MRI of both patients showed multiple long T1 and T2 and high T2Flair signal intensities in the bilateral medulla oblongata, ventral pons, and cranial feet, indicating damage to the brainstem. MRI of the spinal cord in case 2 showed the entire spinal cord was slender and atrophic. MRI of the spinal cord in case 3 showed damage to the posterior cord and lateral cord. Case 2 presented urination disorder and impotence with family history (the patient's uncle had a similar disease history). Nerve conduction examination showed that the bilateral tibial nerve, common peroneal nerve, motor potential, and sensory potential were not elicited. ABCD1 genetic diagnosis revealed a new hemizygous mutation c.358dupC (p.R120Pfs*75). The patient was diagnosed with adrenomyelo-neuropathy (AMN) and was followed up for 2 years, experiencing a gradual aggravation of symptoms. Case 3 displayed adrenocortical dysfunction and significantly increased serum levels of very long chain fatty acids (VLCFA). Nerve conduction examination showed sensory fiber damage of the bilateral tibial nerve and common peroneal nerve. ABCD1 genetic diagnosis showed the mutation c.1553G>A (Arg518Gln). The patient was diagnosed with AMN and was followed up for more than 7 years during which symptoms gradually worsened. The mother and sister of the patient carried the same genetic variation in the ABCD1 gene. Conclusion: Childhood cerebral form ALD is mainly manifested by adrenal and white matter involvement. AMN is mainly manifested by spinal and peripheral nerve involvement, but the adrenal glands and white matter may not be damaged. Increased plasma VLCFA levels and genetic testing are key aspects of ALD diagnosis. Currently the therapeutic method of this disease is primarily symptomatic treatment.