Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
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.
Salvi
S
S
Department of Neurosciences, Pathology, and Radiology, IRCCS-Ospedale Pediatrico "Bambino Gesù", Rome, Italy.
Santorelli
F M
FM
Bertini
E
E
Boldrini
R
R
Meli
C
C
Donati
A
A
Burlina
A B
AB
Rizzo
C
C
Di Capua
M
M
Fariello
G
G
Dionisi-Vici
C
C
D000293:Adolescent; D000328:Adult; D020739:Brain Diseases, Metabolic, Inborn / Q000150:complications / Q000235:genetics; D002648:Child; D002956:Citrulline / Q000031:analogs & derivatives / Q000235:genetics / Q000378:metabolism; D005260:Female; D006801:Humans; D022124:Hyperammonemia / Q000150:complications / Q000235:genetics*; D008297:Male; D008931:Mitochondria, Muscle / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D009952:Ornithine / Q000235:genetics / Q000378:metabolism; D020336:Paraparesis, Spastic / Q000150:complications / Q000235:genetics*; D012189:Retrospective Studies
C001352:homocitrulline; D002956:Citrulline; D009952:Ornithine