Electroclinical features and phenotypic differences in adenylosuccinate lyase deficiency: Long-term follow-up of seven patients from four families and appraisal of the literature.

ABSTRACT:

Objective

Adenylosuccinate lyase (ADSL) deficiency is a rare inherited metabolic disorder with a wide phenotypic presentation, classically grouped into three types (neonatal, type I, and type II). We aim to better delineate the pathological spectrum, focusing on the electroclinical characteristics and phenotypic differences of patients with ADSL deficiency.

Patients and methods

Seven patients, from four different families, underwent serial electroencephalogram (EEG), clinical assessment, and neuroimaging. We also performed a systematic review of the cases published in the literature, summarizing the available clinical, neurophysiological, and genetic data.

Results

We report seven previously unreported ADSL deficiency patients with long-term follow-up (10-34 years). Fr

SUBMITTER: Cutillo G 

PROVIDER: S-EPMC10839293 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature