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
Subtitle of host publicationDiagnosis and Treatment
PublisherSpringer Berlin Heidelberg
Pages323-332
Number of pages10
ISBN (Electronic)9783642157202
ISBN (Print)9783642157196
DOIs
StatePublished - Jan 1 2012

ASJC Scopus subject areas

  • Medicine(all)

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