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October 1990

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

Author Affiliations

From the Departments of Pediatrics and Laboratory Medicine (Dr Tuchman) and Neurology (Dr Knopman), University of Minnesota, Minneapolis; and the Amino Acid Disorder Laboratory, Massachusetts General Hospital, Boston (Dr Shih).

Arch Neurol. 1990;47(10):1134-1137. doi:10.1001/archneur.1990.00530100104022

• 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.

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