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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.
Review
2020
Review
2020
The effect of Nigella Sativa on the measures of liver and kidney parameters: a systematic review and meta-analysis of randomized-controlled trials.
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.
2009
2009
The Human and Mouse SLC25A29 Mitochondrial Transporters Rescue the Deficient Ornithine Metabolism in Fibroblasts of Patients With the Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome
The hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a disorder of the urea cycle (UCD) and ornithine… 
Highly Cited
2003
Highly Cited
2003
The Mitochondrial Ornithine Transporter
Two isoforms of the human ornithine carrier, ORC1 and ORC2, have been identified by overexpression of the proteins in bacteria… 
Review
2002
Review
2002
Diagnosis and monitoring of inborn errors of metabolism using urease-pretreatment of urine, isotope dilution, and gas chromatography-mass spectrometry.
  • T. Kuhara
  • Journal of chromatography. B, Analytical…
  • 2002
  • Corpus ID: 1014398
Highly Cited
2001
Highly Cited
2001
Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
The authors report the clinical and molecular findings in eight patients with hyperornithinemia, hyperammonemia, and… 
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… 
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… 
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