P047: Incidental identification of citrullinemia type 1 through carrier screening post liver transplant

Genetics in Medicine Open 2026 Open access

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Authors: Gabrielle Garizio, David Niemynski, Natalia Rojas, Shideh Mofidi, David F. Kronn
DOI: 10.1016/j.gimo.2026.103538
Cited by: 0

Abstract

Classic citrullinemia most commonly presents with hyperammonemia in the neonatal period. Here we present a case where a post-liver transplant primigravida female presented to our inherited metabolic disease program for evaluation following uncovering of compound heterozygous pathogenic ASS1 variants through expanded carrier screening.

Fields of Study & Subjects

Metabolism and Genetic Disorders Amino Acid Enzymes and Metabolism Neonatal Health and Biochemistry

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103538–103538
Publication date
1 January 2026
Language
EN