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English Journal

Ocular manifestations in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: a rare association.

Kumar K1, Agarwal A, Agarwal A, Dhawan A, Chandani N, Raj P.
Retinal cases & brief reports.Retin Cases Brief Rep.2015 Spring;9(2):134-7. doi: 10.1097/ICB.0000000000000116.
PURPOSE: To report ophthalmic features in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, an uncommon presentation.METHODS: Case report.RESULTS: An 18-year-old Indian boy presented with progressive diminution of vision, night blindness, lenticular opacities, and midperipheral chorioreti
PMID 25411929

Ornithine-δ-aminotransferase inhibits neurogenesis during Xenopus embryonic development and it's crucial mutants.

Peng Y1, Cooper SK2, Li Y3, Mei JM4, Qiu S5, Borchert GL6, Donald SP7, Kung HF8, Phang JM4.
Investigative ophthalmology & visual science.Invest Ophthalmol Vis Sci.2015 Mar 17. pii: IOVS-15-16509. doi: 10.1167/iovs.15-16509. [Epub ahead of print]
PURPOSE: In humans, deficiency of ornithine-d-aminotransferase (OAT) results in progressive degeneration of the neural retina (gyrate atrophy) with blindness in the fourth decade. In this syudy, we used the Xenopus embryonic developmental model to study functions of the OAT gene on embryonic develop
PMID 25783604

Ornithine In Vivo Administration Disrupts Redox Homeostasis and Decreases Synaptic Na+, K +-ATPase Activity in Cerebellum of Adolescent Rats: Implications for the Pathogenesis of Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome.

Zanatta Â1, Viegas CM, Hickmann FH, de Oliveira Monteiro W, Sitta A, de Moura Coelho D, Vargas CR, Leipnitz G, Wajner M.
Cellular and molecular neurobiology.Cell Mol Neurobiol.2015 Mar 13. [Epub ahead of print]
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is an inborn error of metabolism caused by a defect in the transport of ornithine (Orn) into mitochondrial matrix leading to accumulation of Orn, homocitrulline (Hcit), and ammonia. Affected patients present a variable clinical sympto
PMID 25772141

Effect of Long-Term Treatment of L-Ornithine on Visual Function and Retinal Histology in the Rats

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Biological and Pharmaceutical Bulletin 38(1), 139-143, 2015
… Deficiency of this enzyme causes gyrate atrophy of the choroid and retina, an autosomal recessive hereditary disease characterized by the triad of progressive chorioretinal degeneration, early cataract formation, and type II muscle fiber atrophy, with hyperornithinemia. …
NAID 130004872232

A novel R275X mutation of the SLC25A15 gene in a Japanese patient with the HHH syndrome

TORISU Hiroyuki,KIRA Ryutaro,KANAZAWA Naomi,TAKEMOTO Megumi,SANEFUJI Masafumi,SAKAI Yasunari,TSUJINO Seiichi,HARA Toshiro
Brain & development 28(5), 332-335, 2006-06-01
NAID 10020330887

Vitamin B6-Responsive Ornithine Aminotransferase Deficiency with a Novel Mutation G237D

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The Tohoku Journal of Experimental Medicine 205(4), 335-342, 2005
Ornithine aminotransferase (OAT) deficiency (MIM: 258870) is a rare congenital metabolic disorder characterized by gyrate atrophy of the choroid and retina. Here, we report a 37-year-old male with gy …
NAID 130004459391