Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with stroke-like imaging presentation: clinical, biochemical and molecular analysis.

@article{AlHassnan2008Hyperornithinemiahyperammonemiah,
  title={Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with stroke-like imaging presentation: clinical, biochemical and molecular analysis.},
  author={Zuhair N. Al-Hassnan and Mohamed Sanad Rashed and Osama Y Al-Dirbashi and Zoltan Patay and Zuhair A Rahbeeni and Khaled K Abu-Amero},
  journal={Journal of the neurological sciences},
  year={2008},
  volume={264 1-2},
  pages={187-94}
}
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is an autosomal recessive disorder caused by mutations in ORNT1 gene that encodes a mitochondrial ornithine transporter. It has variable clinical presentations with episodic hyperammonemia, liver dysfunction, and chronic neurological manifestations. In this work, we report the findings of HHH syndrome in 3 Saudi siblings. The 4-year-old proband presented with recurrent Reye-like episodes, hypotonia, and multiple stroke-like… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 17 extracted citations

The hyperornithinemia–hyperammonemia-homocitrullinuria syndrome

Orphanet journal of rare diseases • 2015
View 5 Excerpts
Highly Influenced

Acute hyperammonemic encephalopathy presenting as a stroke-like episode: clinical and radiological findings.

International journal of stroke : official journal of the International Stroke Society • 2015

Similar Papers

Loading similar papers…