Phenotypic Pleiotropy in Arginase Deficiency: A Single Center Cohort.

ABSTRACT:

Background

Arginase deficiency is considered a masquerader of diplegic cerebral palsy. The rarity of hyperammonemic crisis and the slowly progressive course has made it a unique entity among the urea cycle defects.

Objectives

The aim of our study is to describe the varied phenotypic spectrum of children with arginase deficiency.

Methodology

This retrospective study included children and adolescents aged <18 years with a biochemical or genetic diagnosis of arginase deficiency from May 2011 to May 2022. Data were collected from the hospital's electronic database. The clinical presentation, laboratory parameters at baseline and during metabolic decompensation, neuroimaging, electroencephalography findings, and molecular studies were analyzed.

Results

About 11 chil

SUBMITTER: Bharathi NK 

PROVIDER: S-EPMC9996474 | biostudies-literature | 2022 Nov-Dec

REPOSITORIES: biostudies-literature