Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
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Salvi S, Santorelli FM, Bertini E, Boldrini R, Meli C, Donati A, Burlina AB, Rizzo C, Di Capua M, Fariello G, Dionisi-Vici C
Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
Neurology. 2001 Sep 11;57(5):911-4.
- PubMed ID
- 11552031 [ View in PubMed]
- Abstract
The authors report the clinical and molecular findings in eight patients with hyperornithinemia, hyperammonemia, and homocitrullinuria (HHH) syndrome. The most consistent neurologic finding was spastic paraparesis, seen in five of the eight patients. However, all showed signs of pyramidal tract involvement. A broad spectrum of pathogenetic mutations (including missense, nonsense, splice site, insertion, and deletions) were identified in the ORNT1 gene.