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Hyperornithinemia, Hyperammonemia, and Homocitrullinuria Syndrome Causing Severe Neonatal Hyperammonemia

Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome (OMIM 238970) is an autosomal recessive disorder that is caused by a deficiency of mitochondrial ornithine transporter 1, resulting in dysfunction of the urea cycle. HHH is the rarest of the urea cycle disorders, reported in fewer tha...

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Bibliografiske detaljer
Udgivet i:JIMD Rep
Main Authors: Wild, Katherine Taylor, Ganetzky, Rebecca D., Yudkoff, Marc, Ierardi-Curto, Lynne
Format: Artigo
Sprog:Inglês
Udgivet: Springer Berlin Heidelberg 2018
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6323011/
https://ncbi.nlm.nih.gov/pubmed/30187369
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2018_132
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