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Article

Diagnosis and high incidence of hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome in northern Saskatchewan.

Journal of inherited metabolic disease - 1 Dec 2010

Sokoro AbdulRazaq A H, Lepage Joyce, Antonishyn Nick, McDonald Ryan, Rockman-Greenberg Cheryl, Irvine James, Lehotay Denis C

Abstract excerpt

Mutations in the SLC25A15 gene, encoding the human inner mitochondrial membrane ornithine transporter, are thought to be responsible for hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome, a rare autosomal recessive condition. HHH syndrome has been detected in several small, isolated communities in northern Saskatchewan (SK). To determine the incidence of HHH syndrome in these communities, a PCR...

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PMID: 20574716
DOI: 10.1007/s10545-010-9148-9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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