Disorders of ornithine metabolism

Matthias R. Baumgartner, David Valle

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Hyperornithinaemia due to ornithine aminotransferase (OAT) deficiency results in gyrate atrophy of the choroid and retina (GA). Although the progression of the retinal degeneration is highly variable, most GA patients lose all functional vision in middle age (45-65 years). Treatment includes an argininerestricted diet and a trial of pharmacological doses (250-500 mg/day) of pyridoxine (vitamin B). Long-term compliance with an arginine-restricted diet, especially when started at a young age, can reduce ornithine accumulation and slow visual loss and chorioretinal degeneration. Creatine supplementation may be indicated to replenish tissue levels, but this question has not yet been adequately addressed. Rarely, OAT-deficient neonates present with hyperammonaemic encephalopathy due to impaired urea cycle function caused by substrate limitation, with associated hypoargininaemia and hypoornithinaemia.

Original languageEnglish (US)
Title of host publicationInborn Metabolic Diseases: Diagnosis and Treatment
PublisherSpringer Berlin Heidelberg
Pages323-332
Number of pages10
ISBN (Print)9783642157202, 9783642157196
DOIs
StatePublished - Jan 1 2012

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Gyrate Atrophy
Ornithine
Ornithine-Oxo-Acid Transaminase
Diet
Vitamin B Complex
Pyridoxine
Retinal Degeneration
Creatine
Brain Diseases
Arginine
Urea
Newborn Infant
Pharmacology
Therapeutics

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Baumgartner, M. R., & Valle, D. (2012). Disorders of ornithine metabolism. In Inborn Metabolic Diseases: Diagnosis and Treatment (pp. 323-332). Springer Berlin Heidelberg. https://doi.org/10.1007/978-3-642-15720-2_22

Disorders of ornithine metabolism. / Baumgartner, Matthias R.; Valle, David.

Inborn Metabolic Diseases: Diagnosis and Treatment. Springer Berlin Heidelberg, 2012. p. 323-332.

Research output: Chapter in Book/Report/Conference proceedingChapter

Baumgartner, MR & Valle, D 2012, Disorders of ornithine metabolism. in Inborn Metabolic Diseases: Diagnosis and Treatment. Springer Berlin Heidelberg, pp. 323-332. https://doi.org/10.1007/978-3-642-15720-2_22
Baumgartner MR, Valle D. Disorders of ornithine metabolism. In Inborn Metabolic Diseases: Diagnosis and Treatment. Springer Berlin Heidelberg. 2012. p. 323-332 https://doi.org/10.1007/978-3-642-15720-2_22
Baumgartner, Matthias R. ; Valle, David. / Disorders of ornithine metabolism. Inborn Metabolic Diseases: Diagnosis and Treatment. Springer Berlin Heidelberg, 2012. pp. 323-332
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