Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

Authors
Salvi, S Santorelli, FM Bertini, E Boldrini, R Meli, C Donati, A Burlina, AB Rizzo, C Di Capua, M Fariello, G Dionisi-Vici, C
Citation
S. Salvi et al., Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, NEUROLOGY, 57(5), 2001, pp. 911-914
Citations number
10
Categorie Soggetti
Neurology,"Neurosciences & Behavoir
Journal title
NEUROLOGY
ISSN journal
00283878 → ACNP
Volume
57
Issue
5
Year of publication
2001
Pages
911 - 914
Database
ISI
SICI code
0028-3878(20010911)57:5<911:CAMFIH>2.0.ZU;2-Z
Abstract
The authors report the clinical and molecular findings in eight patients wi th hyperornithinemia, hyperammonemia, and homocitrullin-uria (HHH) syndrome . The most consistent neurologic finding was spastic paraparesis, seen in f ive of the eight patients. However, all showed signs of pyramidal tract inv olvement. A broad spectrum of pathogenetic mutations (including missense, n onsense, splice site, insertion, and deletions) were identified in the ORNT 1 gene.