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Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome in adulthood: a rare recognizable condition

✍ Scribed by Filosto, Massimiliano; Alberici, Antonella; Tessa, Alessandra; Padovani, Alessandro; Santorelli, Filippo M.


Book ID
125351840
Publisher
Springer Milan
Year
2012
Tongue
English
Weight
278 KB
Volume
34
Category
Article
ISSN
1590-1874

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Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is an autosomal recessive disorder of the urea cycle. With the exception of the French-Canadian founder effect, no common mutation has been detected in other populations. In this study, we collected 16 additional HHH cases and expande

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Eight unrelated Italian patients with the hyperornithinemia, hyperammonemia, and homocitrullinuria (HHH) syndrome were analyzed for mutations in the ORNT1 gene. Seven novel mutations were identified (Q89X, G27R, G190D, R275Q, c.861insG, c.164insA, and IVS5+1G→ → A). Other previously described varian