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Hyperornithinemia

Known as: Ornithine Ketoacid Aminotransferase Deficiency, Ornithine Delta Aminotransferase Deficiency, Deficiency, OAT 
Increased concentration of ornithine in the blood. [HPO:probinson]
National Institutes of Health

Related topics

Related topics

7 relations

Broader (3)

Amino Acid Metabolism, Inborn ErrorsEnzyme DeficiencyRetinal Degeneration
Gyrate AtrophyHHH syndromeOAT geneOrnithine-oxo-acid aminotransferase

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
Tubular aggregates caused by serine active site containing 1 (SERAC1) mutations in a patient with a mitochondrial encephalopathy
Tubular aggregates (TAs) are cytoplasmic aggregates of membranous tubules derived from the sarcoplasmic reticulum and usually 50… 
2012
2012
Amino acid disorders detected by quantitative amino acid HPLC analysis in Thailand: an eight-year experience.
2001
2001
Separation of free amino acids in human plasma by capillary electrophoresis with laser induced fluorescence: potential for emergency diagnosis of inborn errors of metabolism.
1990
1990
Episodic hyperammonemia in adult siblings with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.
A 39-year-old man and his 42-year-old sister, both vegetarians, had episodic confusion for many years, but their mental function… 
1989
1989
Ornithine aminotransferase activity, tissue ornithine concentrations and polyamine metabolism.
1987
1987
Interrelationships between ornithine, glutamate and GABA—I. Feed-back inhibition of ornithine aminotransferase by elevated brain GABA levels
1985
1985
Ornithine Loading Did Not Prevent Induced Hyper ammonemia in a Patient with Hyperornithinemia- Hyperammonemia-Homocitrullinuria Syndrome
ABSTRACT: Impairment of urea cycle function in hyperornithinemia- hyperammonemia-homocitrullinuria syndrome is presumably caused… 
1979
1979
Metabolic studies in two families with hyperornithinemia and gyrate atrophy of choroid and retina.
Studies on the metabolism of selected amino acids were carried out in five patients with gyrate atrophy of the choroid and retina… 
1973
1973
Psychomotor Retardation, Epileptic and Stuporous Attacks, Irritability and Ataxia Associated with Ammonia Intoxication, High Blood Ornithine Levels and Increased Homocitrulline in the Urine
On examination: Height 143 cm, weight 31.5 kg, head circumference 49.5 cm. Cranial nerves intact, optic fundi normal. Generalized… 
1967
1967
Results of a screening method for free amino acids
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