Abstract: Objective　To investigate the clinical and laboratory features of a patient with metachromatic leukodystrophy (MLD）characterized by peripheral nerve injury. Methods　The clinical, laboratory data and genetic result of a patient with MLD characterized by peripheral nerve injury were retrospectively analyzed. Result　A female patient with electromyographic evidence of neurogenic damage presenting walking instability at 18 months after birth,  was diagnosed as common peroneal nerve injury. At 26 months old of age, the patient presented with retrogression of motor function, muscular tension of lower extremity gradually increased. Brainstem auditory evoked potentials showed bilateral Ⅲ-Ⅳ wave interval was greater than theⅠ-Ⅲ wave interval; visual evoked potentials showed prolonged P100 latency. MRI showed bilateral symmetry of the paraventricular nucleus and semioval center white matter area abnormal signals. Plasma carnitine ester profiling and urinary organic acid analysis showed no significant abnormalities. Gene sequencing of arylsulfatase A ARSA identified two heterozygous mutations c.808G> T (p.D270Y) and c.635G> T (p.G212V) which inherited from her phenotypically normal parents. A severe deficiency of Arylsulfatase A (ASA) activity was found in peripheral blood leukocytes (0.7 nmol/mg/h). She was diagnosed as MLD and her parents and brother were healthy with unremarkable family history. Conclusions　The main clinical features of MLD are progressive degeneration of motor function with cognitive, mental disorders and peripheral nerve injury. MRI can help diagnosis. Gene analysis and ASA activity test are important for diagnosis.