Late onset hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome, presenting as recurrent metabolic encephalopathy, A case report

INTRODUCTION: and importance: Hyperornithinemia, hyperammonemia, and homocitrullinuria (HHH) syndrome (OMIM 238970) seems to be an autosomal recessive disorder caused by a mitochondrial ornithine transporter 1 deficiency, which results in urea cycle dysfunction. HHH is the most uncommon of the urea...

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Detalles Bibliográficos
Autores principales: M A Sarhan, Fajr, Jobran, Afnan W.M., Fayyad, Ali, Ghanim, Zaid, Dweikat, Imad, Elewie, Shireen, Habboub, Ala Mustafa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9793129/
https://www.ncbi.nlm.nih.gov/pubmed/36582900
http://dx.doi.org/10.1016/j.amsu.2022.104842

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9793129/
https://www.ncbi.nlm.nih.gov/pubmed/36582900
http://dx.doi.org/10.1016/j.amsu.2022.104842

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