Article
Long-term follow-up of four patients affected by HHH syndrome.
Clinica chimica acta; international journal of clinical chemistry - 11 Jul 2012
Kim Sook Z, Song Wung J, Nyhan William L, Ficicioglu Can, Mandell Roseann, Shih Vivian E
Abstract excerpt
BACKGROUND: In hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome, impaired ornithine transport across the mitochondrial membrane causes ornithine accumulation in cytoplasm. The resulting mitochondrial ornithine deficiency leads to reduced clearance of ammonia through the urea cycle. First described in 1969, no long-term follow-up has been reported. METHODS: Four patients were followed up for 11 to...
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