Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

S. Salvi, F. M. Santorelli, E. Bertini, R. Boldrini, C. Meli, A. Donati, A. B. Burlina, C. Rizzo, M. Di Capua, G. Fariello, Carlo Dionisi-Vici

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)911-914
Number of pages4
JournalNeurology
Volume57
Issue number5
Publication statusPublished - Sep 11 2001

ASJC Scopus subject areas

  • Neuroscience(all)

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