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Clinical and functional characterization of a human ORNT1 mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome.

Pediatric research - 1 Oct 2006

Camacho José A, Mardach Rebecca, Rioseco-Camacho Natalia, Ruiz-Pesini Eduardo, Derbeneva Olga, Andrade Dario, Zaldivar Frank, Qu Yong, Cederbaum Stephen D

Abstract excerpt

We studied two related families (HHH013 and HHH015) with the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome, a disorder of the urea cycle and ornithine degradation pathway, who have the same novel ornithine transporter (ORNT1) genotype (T32R) but a variable phenotype. Both HHH015 patients are doing well in school and are clinically stable; conversely, the three affected HHH013 siblings had...

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Identifiers

PMID: 16940241
DOI: 10.1203/01.pdr.0000238301.25938.f5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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