Episodic Hyperammonemia in Adult Siblings With Hyperornithinemia, Hyperammonemia, and Homocitrullinuria Syndrome

Mendel Tuchman, David S. Knopman, Vivian E. Shih

Research output: Contribution to journalArticle

28 Scopus citations

Abstract

A 39-year-old man and his 42-year-old sister, both vegetarians, had episodic confusion for many years, but their mental function was normal between those episodes. They were recently diagnosed with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. Hyperammonemia was documented during an episode of confusion in the male sibling but not in his sister. Both had elevated plasma ornithine, glutamine, and alanine levels and persistently low plasma lysine levels. Homocitrulline was present in their urine, and orotic aciduria and orotidinuria developed in the male sibling following ingestion of allopurinol. Studies on their cultured skin fibroblasts showed deficient metabolism of ornithine, indicating a defect in ornithine transport across the mitochondrial membrane. During therapy with citrulline and phenylbutyrate sodium, plasma ornithine levels increased in both patients, while plasma levels of glutamine and alanine decreased to normal. Since therapy started, their clinical conditions have also improved, and no recurrent neurologic dysfunction has occurred during a follow-up period of 20 months.

Original languageEnglish (US)
Pages (from-to)1134-1137
Number of pages4
JournalArchives of neurology
Volume47
Issue number10
DOIs
StatePublished - Oct 1990

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology

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