Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome in adulthood: a rare recognizable condition
β 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
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+1Gβ β A). Other previously described varian