Episodic hyperammonemia in adult siblings with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome

M. Tuchman, David S Knopman, V. E. Shih

Research output: Contribution to journalArticle

27 Citations (Scopus)

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
StatePublished - 1990
Externally publishedYes

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Hyperammonemia
Ornithine
Siblings
Confusion
Glutamine
Alanine
Citrulline
Allopurinol
Mitochondrial Membranes
Neurologic Manifestations
Lysine
Fibroblasts
Eating
Urine
Skin
HHH syndrome
Plasma
Syndrome
Therapeutics
Therapy

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Episodic hyperammonemia in adult siblings with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. / Tuchman, M.; Knopman, David S; Shih, V. E.

In: Archives of Neurology, Vol. 47, No. 10, 1990, p. 1134-1137.

Research output: Contribution to journalArticle

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