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; C Dionisi-Vici

doi:10.1212/wnl.57.5.911

Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

Neurology. 2001 Sep 11;57(5):911-4. doi: 10.1212/wnl.57.5.911.

Authors

S Salvi¹, F M Santorelli, E Bertini, R Boldrini, C Meli, A Donati, A B Burlina, C Rizzo, M Di Capua, G Fariello, C Dionisi-Vici

Affiliation

¹ Department of Neurosciences, Pathology, and Radiology, IRCCS-Ospedale Pediatrico "Bambino Gesù", Rome, Italy.

PMID: 11552031
DOI: 10.1212/wnl.57.5.911

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Adult
Brain Diseases, Metabolic, Inborn / complications
Brain Diseases, Metabolic, Inborn / genetics
Child
Citrulline / analogs & derivatives
Citrulline / genetics
Citrulline / metabolism
Female
Humans
Hyperammonemia / complications
Hyperammonemia / genetics*
Male
Mitochondria, Muscle / genetics
Mutation / genetics*
Ornithine / genetics
Ornithine / metabolism
Paraparesis, Spastic / complications
Paraparesis, Spastic / genetics*
Retrospective Studies

Substances

homocitrulline
Citrulline
Ornithine