Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia.

ABSTRACT:

Introduction

Argininemia or arginase deficiency is a metabolic disorder caused by pathogenic variants in ARG1 and consists of a variable association of progressive spastic paraplegia, intellectual disability, and seizures. Hereditary spastic paraplegia (HSP) is a group of inherited diseases whose main feature is a progressive gait disorder characterized by lower limb spasticity. This study presents 7 patients with arginase 1 deficiency from 6 different families, all with an initial diagnosis of complicated HSP.

Methods

We evaluated the clinical data of 7 patients belonging to six independent families who were diagnosed with hyperargininemia in a neurogenetics outpatient clinic.

Results

All patients had lower limb spasticity and six had global developmental delay. Five

SUBMITTER: Freua F 

PROVIDER: S-EPMC9632362 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature