Neurophysiological characteristics in argininemia: a case report.

ABSTRACT: Argininemia is a rare inherited disorder characterized by progressive spastic paraplegia, leading by mutation of the ARG1 gene. Liver transplantation (LT) had been reported to prevent symptoms progression, while its pathophysiology is still unclear. A 13-year-old male patient with argininemia for progressive neurological impairment was admitted to our center. Plasma amino acid screening showed a high concentration of arginine, and gene sequencing showed heterozygous mutation of the ARG1 gene. Spastic Paraplegia Rating Scale (SPRS), motor evoked potentials (MEPs), somatosensory evoked potentials (SEPs), F-wave, electromyography, nerve conduction velocity (NCV), and brain MRI were used to evaluate the patient. Herein, we describe the clinical characteristics of this patient, at

SUBMITTER: Cui B 

PROVIDER: S-EPMC8349968 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature