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+1Gโ โ A). Other previously described varian
โฆ LIBER โฆ
Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family
โ Scribed by Stanley H. Korman; Naomi Kanazawa; Bassam Abu-Libdeh; Alisa Gutman; Seiichi Tsujino
- Book ID
- 119301318
- Publisher
- Elsevier Science
- Year
- 2004
- Tongue
- English
- Weight
- 331 KB
- Volume
- 218
- Category
- Article
- ISSN
- 0022-510X
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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