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Article

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with stroke-like imaging presentation: clinical, biochemical and molecular analysis.

Journal of the neurological sciences - 15 Jan 2008

Al-Hassnan Zuhair N, Rashed Mohamed S, Al-Dirbashi Osama Y, Patay Zoltan, Rahbeeni Zuhair, Abu-Amero Khaled K

Abstract excerpt

Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is an autosomal recessive disorder caused by mutations in ORNT1 gene that encodes a mitochondrial ornithine transporter. It has variable clinical presentations with episodic hyperammonemia, liver dysfunction, and chronic neurologic...

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Source

Identifiers

PMID: 17825324
DOI: 10.1016/j.jns.2007.08.003

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17825324-2026-09-02.1. Manifest publication-graph-cohort-2026-09-02.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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