HHH syndrome

'HHH syndrome' can also refer to...


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A very rare autosomal recessive metabolic disorder (hyperornithinaemia–hyperammonaemia–homocitrullinuria syndrome) caused by mutation in the mitochondrial ornithine transporter (SLC25A15) gene. The clinical symptoms are related to hyperammonaemia and resemble those of other urea cycle disorders.

Subjects: Medicine and Health.

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