Last update 08 May 2025

Adult-Onset Citrullinemia Type 2

Basic Info

Synonyms
Adult onset citrin deficiency, Adult onset type 2 citrullinaemia, Adult onset type 2 citrullinemia
+ [19]
Introduction
An autosomal recessive sub-type of citrullinemia caused by mutation(s) in the SLC25A13 gene, encoding calcium-binding mitochondrial carrier protein Aralar2.

Analysis

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