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Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1).

Molecular genetics and metabolism - 1 Nov 2003

Häberle Johannes, Pauli Silke, Schmidt Eva, Schulze-Eilfing Barbara, Berning Christoph, Koch Hans Georg

Abstract excerpt

Citrullinemia is caused by either deficiency of argininosuccinate synthetase (ASS, citrullinemia type 1) or a defect of the SLC25A13 gene encoding a mitochondrial aspartate-glutamate transporter (citrullinemia type II). Citrullinemia type 1-referred to as classical citrullinemia-is characterized by largely elevated concentrations of citrulline, manifesting with acute hyperammonemic crises predominantly early in...

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PMID: 14680976
DOI: 10.1016/j.ymgme.2003.08.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1).PMID 14680976Read ↗

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