Early prediction of phenotypic severity in Citrullinemia Type 1.

ABSTRACT:

Objective

Citrullinemia type 1 (CTLN1) is an inherited metabolic disease affecting the brain which is detectable by newborn screening. The clinical spectrum is highly variable including individuals with lethal hyperammonemic encephalopathy in the newborn period and individuals with a mild-to-moderate or asymptomatic disease course. Since the phenotypic severity has not been predictable early during the disease course so far, we aimed to design a reliable disease prediction model.

Methods

We used a newly established mammalian biallelic expression system to determine residual enzymatic activity of argininosuccinate synthetase 1 (ASS1; OMIM #215700) in 71 individuals with CTLN1, representing 48 ASS1 gene variants and 50 different, mostly compound heterozygous combinations in to

SUBMITTER: Zielonka M 

PROVIDER: S-EPMC6764635 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature