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Disorders of Ornithine Metabolism

  • Vivian E. Shih
  • Matthias R. Baumgartner

Abstract

Hyperornithinemia due to ornithine aminotransferase (OAT) deficiency is associated with gyrate atrophy of the choroid and retina. Patients usually become virtually blind by age 55. Treatment includes a low arginine diet and pharmacological doses of pyridoxine (vitamin B6). Long term compliance to an arginine-restricted diet, especially when started at a young age, can slow the progression of the chorioretinal lesions and loss of vision. Rarely, neonates can present with hyperammonemic encephalopathy, hypoargininemia, and hypoornithinemia and require arginine supplementation. In the hyperornithinemia, hyperammonemia, and homocitrullinuria (HHH) syndrome there is a wide spectrum of clinical manifestations, most of which are related to the toxicity of hyperammonemia. Progressive spastic paraparesis is often a late complication. Patients have a marked elevation of plasma ornithine associated with hyperammonemia and increased urinary excretion of homocitrulline. HHH results from a defect in the import of ornithine into the mitochondrion and consequent urea synthesis malfunction. Treatment is similar to that for patients with urea cycle disorders.

A newly recognized disorder, Δ 1-pyrroline-5-carboxylate synthase (P5CS) deficiency, has been described in two siblings with progressive neurodegeneration and peripheral neuropathy, joint laxity, skin hyperelasticity and bilateral subcapsular cataracts. Their metabolic phenotype includes mild hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia. This disorder underscores the importance of low levels of amino acids as markers of metabolic disease.

Keywords

Orotic Acid Urea Cycle Disorder Ornithine Aminotransferase Gyrate Atrophy Orotic Aciduria 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer Medizin Verlag Heidelberg 2006

Authors and Affiliations

  • Vivian E. Shih
    • 1
  • Matthias R. Baumgartner
    • 2
  1. 1.Amino Acid Disorder Laboratory, Pediatrics and Neurology ServicesMassachusetts General HospitalBostonUSA
  2. 2.Division of Metabolism and Molecular PediatricsUniversity Children’s HospitalZürichSwitzerland

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